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: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.020 1.000 2 2005 2013
dbSNP: rs11655505
rs11655505
8 0.776 0.160 17 43126360 intron variant G/A snv 0.31 0.010 1.000 1 2010 2010
dbSNP: rs1314913
rs1314913
6 0.807 0.120 14 68232877 intron variant C/T snv 0.13 0.010 1.000 1 2016 2016
dbSNP: rs1445081098
rs1445081098
17 0.724 0.480 22 19963746 missense variant G/C snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs1456315
rs1456315
9 0.790 0.200 8 127091692 non coding transcript exon variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs2588809
rs2588809
6 0.807 0.160 14 68193711 intron variant T/C snv 0.80 0.010 1.000 1 2016 2016
dbSNP: rs3787016
rs3787016
24 0.677 0.280 19 1090804 intron variant A/G snv 0.78 0.010 1.000 1 2017 2017
dbSNP: rs3804099
rs3804099
40 0.627 0.680 4 153703504 synonymous variant T/C snv 0.40 0.48 0.010 1.000 1 2017 2017
dbSNP: rs6504950
rs6504950
7 0.807 0.120 17 54979110 intron variant G/A snv 0.29 0.010 1.000 1 2011 2011
dbSNP: rs671
rs671
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.010 1.000 1 2019 2019
dbSNP: rs7463708
rs7463708
7 0.807 0.120 8 127091810 non coding transcript exon variant G/T snv 0.27 0.010 1.000 1 2017 2017
dbSNP: rs756706958
rs756706958
2 0.925 0.080 7 140776967 missense variant T/C snv 0.010 1.000 1 2013 2013
dbSNP: rs760025060
rs760025060
10 0.776 0.200 2 38074936 missense variant C/T snv 0.010 1.000 1 2004 2004
dbSNP: rs769492487
rs769492487
2 0.925 0.080 22 19964287 synonymous variant G/A;T snv 8.0E-06; 8.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs999737
rs999737
8 0.776 0.200 14 68567965 intron variant C/T snv 0.16 0.010 1.000 1 2016 2016