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: rs28931614
rs28931614
11 0.744 0.179 4 1804392 missense variant G/A,C snp 0.900 0.955 55 1994 2018
dbSNP: rs75790268
rs75790268
2 0.923 0.107 4 1804377 missense variant G/T snp 0.850 1.000 7 1995 2012
dbSNP: rs28933068
rs28933068
11 0.784 0.107 4 1805644 stop gained C/A,G,T snp 1.6E-05 0.740 1.000 5 1998 2014
dbSNP: rs121913114
rs121913114
2 0.923 0.107 4 1801930 missense variant A/G,T snp 4.0E-06 0.700 2 2007 2008
dbSNP: rs121913482
rs121913482
30 0.685 0.393 4 1801837 missense variant C/T snp 0.700 1 2014 2014
dbSNP: rs121913105
rs121913105
16 0.724 0.179 4 1806163 missense variant A/C,T snp 0.700 0
dbSNP: rs121913479
rs121913479
10 0.744 0.286 4 1804362 missense variant G/A,T snp 4.0E-06 3.2E-05 0.010 1.000 1 2000 2000
dbSNP: rs267608572
rs267608572
1 1.000 0.071 X 154030690 missense variant C/T snp 3.5E-04 1.6E-04 0.010 1.000 1 2016 2016
dbSNP: rs587781858
rs587781858
5 0.846 0.179 17 7669671 missense variant C/A,G,T snp 4.0E-06; 4.0E-06 3.2E-05 0.010 1.000 1 2002 2002
dbSNP: rs751731391
rs751731391
1 1.000 0.071 10 121500901 C/T snp 1.2E-05 3.2E-05 0.010 1.000 1 2004 2004
dbSNP: rs756254503
rs756254503
2 0.923 0.107 5 151669740 missense variant G/C snp 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs776165919
rs776165919
1 1.000 0.071 6 144437643 missense variant G/A snp 8.8E-05 0.010 1.000 1 2016 2016