Bioinformatics (2009)  Supplementary Information

An integrative scoring system for ranking SNPs by their potential deleterious effects
Phil Hyoun Lee and Hagit Shatkay

Computational Biology and Machine Learning Lab
School of Computing, Queen's University, Kingston, Ontario, Canada, K7L 3N6


TABLE 1. Disease-causing or Disease-associated SNPs from OMIM and their assessed Functional Significance score 
We have obtained the list of 1,399 disease-causing or disease-associated SNPs from the FTP site: ftp://ftp.ncbi.nih.gov/snp/database/organism_data/human_9606/OmimVarLocusIdSNP.bcp.gz. The downloaded list contains the dbSNP ids of the SNPs that are linked to the ALLELIC VARIANT entry in the OMIM (Online Mendelian Inheritance in Man) database, which is described as either disease-producing mutations or polymorphisms with a positive statistical correlation with particular common disorders based on the bio-medical literature information.

There are some examples of known disease-related SNPs with a high functional significance score. For example, three SNPs on NAT2, namely, rs1799930, rs1801280, and rs1208 are included in the list of 1,399 disease-causing or disease-associated SNPs. The assessed FS scores for the three SNPs are 0.866, 0.584, and 0.858, respectively, designating high functional significance of the SNPs. In OMIM, all the three SNPs are described to be relevant to slow acetylation activity (Vatsis et al. 1991), and rs1801280 has been reported to be strongly associated with susceptibility to bladder cancer and adverse drug reactions (Hein et al., 2000; Hein, 2002; Patin et al. 2006; OMIM ID: 243400). Other examples of high scoring, known disease-causing or disease-associated SNPs are rs7775 and rs288326, which have been reported as a strong risk factor for primary osteoarthritis of the hip in females (Loughlin et al. 2004; OMIM ID: 605083).

dbSNP ids	OMIM ids	FS Scoring Results
rs669	103950	0.98
rs671	100650	0.85
rs1205	123260	0.24
rs1205	152700	0.24
rs1208	243400	0.85
rs1748	191100	0.36
rs4673	608508	0.90
rs4880	147460	0.33
rs4961	102680	0.62
rs4994	109691	0.55
rs5036	109270	0.35
rs5352	131244	0.53
rs5370	131240	0.11
rs5882	118470	0.31
rs5907	142360	0.62
rs5917	173470	0.89
rs5918	173470	0.61
rs6025	227400	0.63
rs6046	227500	0.57
rs6063	134850	0.74
rs6133	173610	0.19
rs6165	136435	0.32
rs6166	136435	0.25
rs6180	600946	0.31
rs6195	138040	0.74
rs6265	113505	0.65
rs6267	116790	0.5
rs6267	116790	0.5
rs6336	191315	0.74
rs6339	191315	0.10
rs7412	107741	0.90
rs7412	107741	0.90
rs7412	107741	0.90
rs7775	605083	1
rs7775	605083	1
rs11276	110600	0.41
rs12026	602447	0.40
rs13551	230000	0.19
rs16139	162640	0.77
rs16260	192090	0.26
rs16260	192090	0.26
rs16947	124030	1
rs17580	107400	0.70
rs26722	606202	0.10
rs27072	143465	0.10
rs34330	176807	0.26
rs140593	134797	0.56
rs144848	600185	0.26
rs154001	121050	0.28
rs180223	188450	0.25
rs182549	601806	0.28
rs182549	601806	0.28
rs203462	604694	0.56
rs213950	602421	0.65
rs231775	123890	0.59
rs241447	170261	0.27
rs241448	170261	1
rs283413	103730	0.89
rs283413	103730	0.89
rs288326	605083	0.75
rs288326	605083	0.75
rs324420	602935	0.38
rs324981	608595	0.27
rs334558	605004	0.10
rs364897	606463	0.95
rs381737	606463	0.13
rs391695	607415	0.5
rs391695	603176	0.5
rs421016	606463	0.58
rs421016	606463	0.58
rs429358	107741	0.31
rs429358	107741	0.31
rs429358	107741	0.31
rs450046	606810	0.27
rs460897	134370	0.39
rs486907	180435	0.49
rs545659	600807	0.5
rs545659	604837	0.5
rs547154	217000	0.20
rs547154	217000	0.20
rs569108	147138	0.57
rs609320	111700	0.98
rs696217	605353	0.77
rs707284	600543	0.24
rs709932	107400	0.64
rs713598	607751	0.14
rs741761	607961	0.23
rs751141	132811	0.56
rs751229	605210	0.17
rs751229	605210	0.17
rs769452	107741	0.53
rs769455	107741	0.76
rs800292	134370	0.29
rs820878	606873	0.33
rs846664	604867	0.36
rs846664	604867	0.36
rs854560	168820	0.95
rs861539	600675	0.5
rs880213	607154	0.10
rs880213	602291	0.10
rs908832	600047	0.22
rs908832	104300	0.22
rs946616	232700	0.55
rs1021737	607657	0.86
rs1041981	153440	0.5
rs1042391	139265	0.18
rs1042522	191170	0.09
rs1042602	606933	0.53
rs1042713	109690	0.66
rs1042714	109690	0.98
rs1044498	173335	0.5
rs1045642	171050	0.52
rs1045642	171050	0.52
rs1047286	120700	0.54
rs1049564	164050	0.19
rs1050565	602403	0.51
rs1050828	305900	0.36
rs1050828	305900	0.36
rs1050829	305900	0.36
rs1051740	132810	0.69
rs1051931	601690	0.62
rs1057141	170260	1
rs1057910	601130	0.26
rs1058396	111000	0.63
rs1061170	134370	0.36
rs1061234	142200	0.88
rs1061234	142200	0.88
rs1061234	142200	0.88
rs1061234	142250	0.88
rs1061234	142250	0.88
rs1064422	146770	0.61
rs1064651	606463	0.95
rs1065852	124030	0.5
rs1126809	606933	0.30
rs1135062	111200	0.15
rs1137100	601007	0.53
rs1137101	601007	0.29
rs1142345	187680	0.58
rs1229984	103720	0.30
rs1325310	114208	0.10
rs1325310	114208	0.10
rs1426654	609802	0.84
rs1426654	609802	0.84
rs1494555	146661	0.36
rs1494558	146661	0.10
rs1566734	600925	0.53
rs1726866	607751	0.54
rs1736557	136132	0.27
rs1799724	191160	0.15
rs1799724	191160	0.15
rs1799807	177400	0.68
rs1799864	601267	0.10
rs1799930	243400	0.86
rs1799945	235200	0.46
rs1799971	600018	0.23
rs1799971	600018	0.23
rs1799983	163729	1
rs1799999	600917	0.55
rs1800093	602421	0.73
rs1800098	602421	0.08
rs1800111	602421	0.26
rs1800123	602421	0.94
rs1800278	300377	0.12
rs1800279	300377	0.23
rs1800309	606800	0.55
rs1800321	300461	0.53
rs1800324	300461	0.79
rs1800433	103950	0.90
rs1800435	125270	0.63
rs1800443	126452	0.51
rs1800447	152780	1
rs1800449	153455	0.33
rs1800450	154545	1
rs1800451	154545	0.72
rs1800452	601373	0.58
rs1800454	170261	0.33
rs1800456	258870	0.53
rs1800460	187680	0.84
rs1800460	187680	0.84
rs1800461	606999	0.91
rs1800462	187680	0.71
rs1800544	143465	0.06
rs1800544	104210	0.06
rs1800546	229600	0.59
rs1800553	601691	0.71
rs1800554	601691	0.57
rs1800555	601691	0.5
rs1800556	606885	0.68
rs1800559	114208	0.86
rs1800560	601373	1
rs1800562	235200	0.72
rs1800576	188040	0.42
rs1800709	113705	0.71
rs1800718	191100	0.17
rs1800725	191100	0.65
rs1800729	191100	0.53
rs1800730	235200	0.61
rs1800742	191100	0.91
rs1800748	191100	0.91
rs1800858	164761	0.33
rs1800888	109690	0.5
rs1800940	601373	0.74
rs1800944	601373	0.33
rs1800947	152700	0.29
rs1800947	123260	0.29
rs1801086	180901	0.92
rs1801131	607093	0.53
rs1801133	607093	0.49
rs1801155	175100	0.87
rs1801176	232200	0.66
rs1801200	164870	0.23
rs1801203	179615	0.65
rs1801252	109630	0.64
rs1801253	109630	0.77
rs1801265	274270	0.57
rs1801267	274270	0.92
rs1801270	116899	0.54
rs1801271	164770	0.16
rs1801272	122720	0.41
rs1801275	147781	0.63
rs1801280	243400	0.58
rs1801710	131244	0.59
rs1801725	601199	0.74
rs1801968	605204	0.92
rs1802959	107400	1
rs1803274	177400	0.53
rs1804495	314200	0.56
rs1805005	155555	0.28
rs1805006	155555	0.90
rs1805007	155555	0.79
rs1805008	155555	0.78
rs1805015	147781	0.51
rs1805018	601690	0.89
rs1805031	601949	0.63
rs1805032	601949	1
rs1805076	603113	0.65
rs1805124	600163	0.54
rs1805124	600163	0.54
rs1805137	601757	1
rs1805142	607854	0.56
rs1805388	601837	0.84
rs1805389	601837	0.55
rs1807467	606810	0.77
rs1912960	137141	0.24
rs2004640	607218	0.20
rs2066702	103720	0.86
rs2066844	605956	0.54
rs2066845	605956	0.72
rs2070074	606999	0.92
rs2070075	606999	0.32
rs2070729	608174	0.06
rs2071421	607574	1
rs2072493	603031	0.59
rs2072649	607961	0.17
rs2073658	191523	0.17
rs2073658	191523	0.17
rs2073711	603489	0.74
rs2075291	606368	0.55
rs2076530	606000	0.25
rs2076530	606000	0.25
rs2076530	181000	0.25
rs2227564	191840	0.58
rs2227885	121014	0.59
rs2228063	259730	0.5
rs2228479	155555	0.36
rs2229707	602044	0.65
rs2229843	188450	0.36
rs2230199	120700	0.25
rs2230500	605437	0.87
rs2230806	600046	0.5
rs2234036	314200	0.40
rs2234922	132810	0.14
rs2236225	172460	0.10
rs2249358	603903	0.17
rs2279744	164785	0.24
rs2279744	164785	0.24
rs2280073	137141	0.17
rs2281845	114208	0.24
rs2281845	114208	0.24
rs2285644	109270	0.26
rs2293869	603937	0.35
rs2300929	120900	0.17
rs2300929	120900	0.17
rs2301612	604134	0.57
rs2303067	605010	0.5
rs2303790	118470	0.54
rs2435357	164761	0.20
rs2435357	164761	0.20
rs2488457	600716	0.5
rs2736654	138750	0.64
rs2870984	606810	0.31
rs2904551	606810	0.74
rs2904552	606810	0.31
rs3087456	600005	0.17
rs3087456	600005	0.17
rs3092857	607585	0.36
rs3092891	180200	1
rs3135506	606368	0.72
rs3180383	606953	0.5
rs3188996	167415	0.19
rs3218713	160760	0.63
rs3218714	160760	0.62
rs3219018	604590	0.10
rs3219018	604590	0.10
rs3732379	601470	0.26
rs3737787	191523	0.06
rs3737787	191523	0.06
rs3741040	102772	0.96
rs3741981	164350	0.19
rs3743930	608107	0.27
rs3743930	608107	0.27
rs3751143	602566	0.49
rs3765187	173510	0.18
rs3792267	605286	0.06
rs3792267	605286	0.06
rs3793784	609413	0.17
rs3804505	608815	0.93
rs3807153	605239	0.84
rs3810710	300502	1
rs3831308	114208	0.10
rs3831308	114208	0.10
rs3863145	143465	0.10
rs3924999	142445	0.32
rs3924999	104300	0.32
rs3948464	604457	0.27
rs3948464	607948	0.27
rs3970559	606810	0.37
rs4253527	178630	1
rs4570625	143465	0.17
rs4646953	146680	0.10
rs4684677	605353	0.91
rs4784677	606151	0.56
rs4792311	605367	0.61
rs4950928	601525	0.10
rs4950928	181500	0.10
rs4986790	603030	0.62
rs4986791	603030	0.53
rs4986852	113705	0.57
rs4986893	124020	1
rs4987076	108345	0.5
rs4988235	601806	0.15
rs4988235	601806	0.15
rs4988321	603506	0.36
rs5030730	300377	1
rs5030732	191342	0.48
rs5030737	154545	0.75
rs5030737	152780	0.68
rs5030774	152780	0.18
rs5030776	136530	0.87
rs5030806	608537	0.39
rs5030841	261600	0.69
rs5030843	261600	0.89
rs5030846	261600	1
rs5030847	261600	0.79
rs5030850	261600	1
rs5030851	261600	0.92
rs5030854	261600	1
rs5030856	261600	0.69
rs5030859	261600	0.62
rs5030865	124030	1
rs5030868	305900	0.63
rs5030869	305900	0.45
rs5030872	305900	0.54
rs5030872	305900	0.54
rs5030952	605286	0.20
rs5030952	605286	0.20
rs5030980	602311	0.87
rs5744168	603031	1
rs6438552	605004	0.10
rs7076156	607818	0.74
rs7566605	601665	0.10
rs7566605	608660	0.10
rs8176058	110900	0.31
rs8177374	606252	0.33
rs8179183	601007	0.53
rs9282671	601771	0.55
rs9332964	607306	0.69
rs9809219	600857	0.36
rs10151259	605446	0.31
rs10246939	607751	0.5
rs11053646	602601	0.22
rs11083750	107741	0.58
rs11200638	602194	0.5
rs11244705	258870	0.53
rs11258194	602432	0.12
rs11466023	608107	0.28
rs11466024	608107	0.63
rs11540652	191170	0.91
rs11541794	176300	0.74
rs11547328	123829	0.60
rs11554273	139320	0.61
rs11554290	164790	0.88
rs11555096	276700	0.36
rs11556045	606873	0.93
rs11558261	107400	0.62
rs11568372	603201	0.67
rs11570255	131242	0.42
rs11570351	131242	0.37
rs11575933	604134	0.31
rs11575937	150330	0.23
rs11591147	607786	0.37
rs11739136	603951	0.57
rs11971167	602421	0.63
rs12021720	248610	0.58
rs12720441	152427	0.80
rs12720459	607542	0.50
rs12735723	600923	0.33
rs12948217	608034	1
rs13133980	602710	0.5
rs13306487	173470	0.09
rs13440581	309200	0.10
rs13440581	300207	0.10
rs13447324	155541	1
rs13447325	155541	0.84
rs13447331	155541	0.34
rs16858811	609423	0.23
rs16858811	146929	0.23
rs16874954	601690	0.49
rs16879498	180297	0.56
rs16891982	606202	0.94
rs17107315	167790	0.37
rs17158558	164761	0.47
rs17215437	604433	0.64
rs17215500	607542	1
rs17221854	607542	0.23
rs17292650	159530	0.5
rs17602729	102770	1
rs17822931	607040	0.44
rs17822931	607040	0.44
rs17848368	602044	0.90
rs17855739	136836	0.83
rs17860424	601763	0.84
rs28362286	607786	1
rs28362459	111100	0.35
rs28362692	107776	0.19
rs28374544	603693	0.5
rs28381349	603382	0.59
rs28399447	122720	0.47
rs28399504	124020	0.5
rs28399653	111200	0.43
rs28441465	111700	0.19
rs28730837	606989	0.10
rs28756986	604395	0.5
rs28897672	113705	0.52
rs28903098	605882	0.77
rs28904921	607585	0.32
rs28928868	134934	0.91
rs28928868	134934	0.91
rs28928869	134934	0.92
rs28928869	134934	0.92
rs28928870	136435	0.70
rs28928871	136435	0.60
rs28928872	137167	0.77
rs28928873	138130	0.75
rs28928874	138160	0.72
rs28928875	141800	0.89
rs28928875	141800	0.89
rs28928876	141800	0.58
rs28928877	141800	0.10
rs28928878	141800	0.81
rs28928879	141800	0.53
rs28928880	141800	0.50
rs28928882	141800	0.77
rs28928883	141800	0.64
rs28928884	141800	0.46
rs28928885	141800	0.51
rs28928886	141800	0.5
rs28928887	141850	0.58
rs28928888	141850	0.19
rs28928889	141850	0.26
rs28928890	142983	0.10
rs28928891	142989	0.45
rs28928892	142989	0.62
rs28928893	148066	0.49
rs28928894	148067	0.52
rs28928895	148067	0.51
rs28928896	148069	0.60
rs28928897	148069	0.82
rs28928897	148069	0.82
rs28928898	148069	0.51
rs28928899	148069	0.77
rs28928899	148069	0.77
rs28928900	150330	0.29
rs28928901	150330	0.34
rs28928902	150330	0.85
rs28928903	150330	0.62
rs28928904	152427	0.70
rs28928905	152427	1
rs28928906	154550	0.53
rs28928907	159530	0.46
rs28928908	159530	0.74
rs28928909	159991	0.5
rs28928910	162280	0.38
rs28929468	107300	0.5
rs28929469	107300	0.39
rs28929470	107400	0.25
rs28929471	107400	0.55
rs28929472	107400	0.31
rs28929472	107400	0.31
rs28929473	107400	0.56
rs28929474	107400	0.95
rs28929476	107680	0.24
rs28929477	107777	0.30
rs28929478	108740	0.81
rs28929479	108961	0.92
rs28929480	109270	0.28
rs28929481	118490	0.32
rs28929482	118490	0.51
rs28929485	121011	0.84
rs28929486	121300	0.39
rs28929487	121300	0.41
rs28929488	122500	0.90
rs28929489	123590	0.68
rs28929491	124015	0.58
rs28929493	130130	0.39
rs28929495	131550	0.58
rs28929496	133530	0.52
rs28929497	134370	0.27
rs28929498	134637	0.53
rs28929498	134637	0.53
rs28929499	134637	0.24
rs28929501	134797	0.58
rs28929768	100725	0.70
rs28930068	114208	0.54
rs28930069	114208	0.75
rs28930070	118490	0.59
rs28930071	118490	0.62
rs28930072	120220	0.5
rs28930074	124080	0.19
rs28930075	125660	0.5
rs28930076	134797	0.10
rs28930974	103000	0.69
rs28930976	103600	0.32
rs28930977	104311	0.36
rs28930978	107300	0.33
rs28931568	107400	0.82
rs28931569	107400	0.70
rs28931570	107400	0.58
rs28931572	107400	0.79
rs28931573	107680	0.39
rs28931574	107680	0.76
rs28931575	107680	0.50
rs28931576	107741	0.5
rs28931577	107741	0.77
rs28931578	107741	0.30
rs28931579	107741	0.28
rs28931580	107777	0.78
rs28931581	108961	0.88
rs28931582	108961	0.52
rs28931583	109270	0.22
rs28931584	109270	0.10
rs28931585	109270	0.40
rs28931586	109535	0.88
rs28931588	116806	0.23
rs28931588	116806	0.23
rs28931589	116806	0.65
rs28931590	116897	0.56
rs28931591	118504	0.74
rs28931592	121011	0.5
rs28931593	121011	0.54
rs28931594	121011	0.40
rs28931595	121011	0.90
rs28931596	121014	0.20
rs28931597	121014	0.19
rs28931598	121014	0.26
rs28931599	121014	0.29
rs28931600	121014	0.29
rs28931601	121014	0.62
rs28931602	121050	0.60
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rs28939707	603381	0.60
rs28939708	603506	0.35
rs28939710	603537	0.32
rs28939712	603722	0.41
rs28939715	603851	0.55
rs28939716	603851	0.70
rs28939717	603945	0.27
rs28939719	604161	0.62
rs28939720	604210	0.49
rs28940268	607800	0.40
rs28940269	607800	0.34
rs28940270	607800	0.40
rs28940271	607800	0.65
rs28940273	607854	0.58
rs28940274	607854	0.62
rs28940275	607854	0.28
rs28940276	607854	0.32
rs28940279	608034	0.74
rs28940280	608102	0.88
rs28940282	608160	0.75
rs28940283	608307	0.79
rs28940284	608309	0.26
rs28940285	608309	0.63
rs28940286	608310	0.67
rs28940287	608310	0.50
rs28940288	608348	0.41
rs28940289	608451	0.38
rs28940290	608465	0.30
rs28940291	608507	0.29
rs28940293	608507	0.25
rs28940294	608507	0.30
rs28940295	608507	0.29
rs28940297	608537	0.56
rs28940298	608537	0.56
rs28940300	608537	0.56
rs28940301	608537	0.92
rs28940302	608547	0.81
rs28940303	608547	0.09
rs28940304	608547	0.32
rs28940305	608547	0.39
rs28940308	608666	0.39
rs28940309	608771	0.87
rs28940310	608771	0.60
rs28940314	608830	0.33
rs28940315	608830	0.45
rs28940568	607800	0.42
rs28940569	607837	0.61
rs28940570	607854	0.46
rs28940571	607922	0.61
rs28940572	607922	0.51
rs28940573	607998	0.56
rs28940574	608034	0.91
rs28940575	608072	1
rs28940576	608072	0.28
rs28940577	608107	0.5
rs28940578	608107	0.90
rs28940579	608107	0.5
rs28940580	608107	0.36
rs28940580	608107	0.36
rs28940581	608107	0.5
rs28940582	608272	0.77
rs28940583	608272	0.53
rs28940584	608272	0.30
rs28940585	608310	0.70
rs28940586	608374	0.50
rs28940587	608455	0.56
rs28940588	608750	0.48
rs28940589	608786	1
rs28940590	608786	0.56
rs28940591	608786	0.90
rs28940868	606800	0.69
rs28940869	606822	0.78
rs28940870	606860	0.84
rs28940871	606869	0.51
rs28940872	606885	0.77
rs28940874	606885	0.43
rs28940875	606885	0.73
rs28940876	606933	0.52
rs28940877	606933	0.55
rs28940878	606933	0.31
rs28940879	606933	0.54
rs28940880	606933	0.52
rs28940881	606933	0.53
rs28940882	606953	0.58
rs28940883	606953	0.40
rs28940884	606953	0.85
rs28940885	606953	0.50
rs28940886	606967	0.5
rs28940887	606967	0.48
rs28940888	606967	0.50
rs28940889	607036	0.22
rs28940890	607108	0.71
rs28940891	607215	0.38
rs28940892	607397	0.91
rs28940893	607574	0.50
rs28940894	607574	0.74
rs28940895	607574	0.25
rs28940896	607606	0.41
rs28940897	607623	0.58
rs28941468	607854	0.38
rs28941469	607854	0.56
rs28941471	608222	0.53
rs28941472	608310	0.93
rs28941473	608310	0.25
rs28941476	608508	0.45
rs28941768	606806	1
rs28941769	606847	0.34
rs28941770	606869	0.69
rs28941771	606869	0.60
rs28941772	606873	0.38
rs28941773	606885	0.52
rs28941774	606938	0.31
rs28941775	606938	0.34
rs28941776	606945	0.42
rs28941777	607102	0.25
rs28941778	607102	0.26
rs28941779	607102	0.26
rs28941782	607423	0.43
rs28941783	607474	0.65
rs28941784	607568	0.44
rs28941785	607657	0.39
rs28941786	607657	0.54
rs28942068	606822	0.62
rs28942069	606829	0.5
rs28942070	606829	0.20
rs28942071	606869	0.58
rs28942072	606869	0.10
rs28942073	606873	0.28
rs28942074	606882	0.58
rs28942075	606882	0.96
rs28942076	606882	0.52
rs28942078	606945	0.53
rs28942079	606945	0.74
rs28942080	606945	0.33
rs28942081	606945	0.53
rs28942082	606945	0.41
rs28942083	606945	0.68
rs28942084	606945	0.59
rs28942086	606945	0.57
rs28942087	606967	0.31
rs28942088	607035	0.38
rs28942090	607144	0.46
rs28942091	607170	0.56
rs28942092	607170	0.36
rs28942094	607199	0.55
rs28942095	607199	0.39
rs28942098	607393	0.5
rs28942099	607444	1
rs28942100	607474	0.35
rs28942102	607585	0.26
rs28942103	607585	0.34
rs28942104	607623	0.26
rs28942105	607623	0.52
rs28942106	607623	0.51
rs28942107	607623	0.33
rs28942108	607623	0.46
rs28942109	607690	0.31
rs28942110	607690	0.60
rs28942113	607788	0.40
rs28942114	607788	0.70
rs28997576	601593	0.33
rs28999110	100725	0.26
rs28999111	102560	0.66
rs28999112	102560	0.86
rs28999113	102600	1
rs28999114	103220	0.27
rs28999969	190160	0.54
rs28999970	190160	0.37
rs28999971	190160	0.57
rs29001566	180380	0.39
rs29001566	180380	0.39
rs29001571	602195	0.60
rs29001584	608465	0.5
rs29001637	180380	0.29
rs29001653	180380	0.50
rs29001665	608465	0.73
rs29001685	601105	0.68

TABLE 2. Prediction Results for Disease-related SNPs.
LOW_FS_SCORE means the assessed FS score is lower than 0.5, while HIGH_FS_SCORE means the assessed FS score is not less than 0.5.

Function	LOW_FS_SCORE Count (%)	HIGH_FS_SCORE Count (%)	Total Count (%)
nonsense	0	16 (1.14%)	16 (1.14%)
protein coding	296 (21.16%)	331 (23.66%)	627 (44.82%)
post translation	25 (1.79%)	103 (7.36%)	128 (9.15%)
canonical splicing regulation	0	2 (0.14%)	2 (0.14%)
exonic splicing regulation	142 (10.15%)	307 (21.94%)	449 (32.09%)
transcriptional regulation	58 (4.15%)	8 (0.57%)	66 (4.72%)
no function	127 (9.08%)	0	127 (9.08%)
Total Count (%)			1399 (100%)