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: rs387906587
rs387906587
3 1.000 7 128835550 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs573899913
rs573899913
1 7 128850448 missense variant T/G snv 9.2E-05 2.1E-05 0.010 1.000 1 2017 2017
dbSNP: rs768941858
rs768941858
2 1.000 0.080 7 128854900 missense variant G/A snv 4.0E-05 2.8E-05 0.010 1.000 1 2019 2019