Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1250544
rs1250544
3 0.882 0.080 10 79273128 intron variant G/A snv 0.32 0.810 1.000 1 2012 2012
dbSNP: rs1008953
rs1008953
1 1.000 0.040 20 45352086 upstream gene variant T/C snv 0.79 0.800 1.000 1 2010 2010
dbSNP: rs1056198
rs1056198
2 0.925 0.040 20 49939692 intron variant C/T snv 0.34 0.800 1.000 1 2012 2012
dbSNP: rs10865331
rs10865331
5 0.827 0.120 2 62324337 intergenic variant A/G snv 0.57 0.800 1.000 1 2012 2012
dbSNP: rs10979182
rs10979182
1 1.000 0.040 9 108054739 regulatory region variant A/G snv 0.44 0.800 1.000 1 2012 2012
dbSNP: rs11121129
rs11121129
1 1.000 0.040 1 8208035 intron variant G/A snv 0.26 0.800 1.000 1 2012 2012
dbSNP: rs12445568
rs12445568
2 0.925 0.040 16 30993491 splice region variant T/C snv 0.39 0.38 0.800 1.000 1 2012 2012
dbSNP: rs1250546
rs1250546
3 0.925 0.080 10 79272775 intron variant A/G snv 0.36 0.800 1.000 1 2012 2012
dbSNP: rs1295685
rs1295685
7 0.790 0.160 5 132660753 3 prime UTR variant A/G snv 0.81 0.800 1.000 1 2012 2012
dbSNP: rs1975974
rs1975974
1 1.000 0.040 17 22180454 intron variant A/G snv 0.18 0.800 1.000 1 2010 2010
dbSNP: rs2066819
rs2066819
2 0.925 0.040 12 56356420 intron variant C/T snv 4.9E-02 4.5E-02 0.800 1.000 1 2012 2012
dbSNP: rs27432
rs27432
2 0.925 0.040 5 96783569 intron variant A/C;G snv 0.800 1.000 1 2012 2012
dbSNP: rs280519
rs280519
10 0.752 0.320 19 10362257 splice region variant A/C;G snv 0.50 0.800 1.000 1 2010 2010
dbSNP: rs3802826
rs3802826
2 0.925 0.040 11 128536543 non coding transcript exon variant A/G;T snv 0.800 1.000 1 2012 2012
dbSNP: rs4085613
rs4085613
5 0.827 0.160 1 152577542 downstream gene variant T/G snv 0.59 0.800 1.000 1 2009 2009
dbSNP: rs4406273
rs4406273
2 0.925 0.040 6 31298313 intron variant G/A snv 8.6E-02 0.800 1.000 1 2012 2012
dbSNP: rs458017
rs458017
2 0.925 0.080 6 111374888 missense variant T/C snv 5.9E-02 5.6E-02 0.800 1.000 1 2010 2010
dbSNP: rs4780355
rs4780355
3 0.882 0.120 16 11254001 intron variant T/C;G snv 0.800 1.000 1 2012 2012
dbSNP: rs4821124
rs4821124
4 0.851 0.240 22 21625000 downstream gene variant T/C snv 0.19 0.800 1.000 1 2012 2012
dbSNP: rs545979
rs545979
1 1.000 0.040 18 54293380 intron variant C/T snv 0.26 0.800 1.000 1 2012 2012
dbSNP: rs62149416
rs62149416
2 0.925 0.040 2 60856371 intron variant T/C snv 0.26 0.800 1.000 1 2012 2012
dbSNP: rs6677595
rs6677595
1 1.000 0.040 1 152617711 downstream gene variant C/G;T snv 0.800 1.000 1 2012 2012
dbSNP: rs6809854
rs6809854
1 1.000 0.040 3 18742931 intron variant A/G snv 0.19 0.800 1.000 1 2010 2010
dbSNP: rs7536201
rs7536201
2 0.925 0.040 1 24966593 upstream gene variant T/C;G snv 0.800 1.000 1 2012 2012
dbSNP: rs963986
rs963986
1 1.000 0.040 17 42409561 intron variant G/C snv 0.15 0.800 1.000 1 2012 2012