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: rs1057520039
rs1057520039
4 0.882 0.200 19 1207169 stop gained C/G;T snv 0.700 1.000 1 2007 2007
dbSNP: rs730881972
rs730881972
2 1.000 0.080 19 1220395 missense variant G/C;T snv 0.700 1.000 1 2007 2007
dbSNP: rs764449808
rs764449808
1 1.000 0.080 19 1218494 missense variant A/G snv 1.2E-05 3.5E-05 0.700 1.000 1 2007 2007