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: rs137852810
rs137852810
1 1.000 17 7454341 missense variant G/A snv 0.800 1.000 5 1996 2016
dbSNP: rs137852811
rs137852811
1 1.000 17 7454329 missense variant C/A snv 0.800 1.000 3 1996 2016
dbSNP: rs201033437
rs201033437
1 1.000 17 7447556 stop gained C/G;T snv 4.8E-05; 8.0E-06 0.700 0
dbSNP: rs766823872
rs766823872
1 1.000 17 7446837 stop gained G/A snv 3.2E-05 2.1E-05 0.700 0