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: rs121908587
rs121908587
6 0.827 0.120 4 54278380 missense variant C/T snv 0.020 1.000 2 2012 2014
dbSNP: rs77375493
rs77375493
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.020 1.000 2 2005 2007
dbSNP: rs1192565382
rs1192565382
2 0.925 0.080 9 130884389 missense variant C/T snv 4.1E-06 0.010 1.000 1 2014 2014
dbSNP: rs121913459
rs121913459
25 0.672 0.160 9 130872896 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs938448224
rs938448224
7 0.807 0.160 17 42207711 missense variant T/G snv 7.0E-06 0.010 1.000 1 2019 2019