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: rs1085307185
rs1085307185
2 0.925 0.040 2 202464978 missense variant A/C snv 0.700 1.000 1 2002 2002
dbSNP: rs1085307354
rs1085307354
2 0.925 0.040 2 202552749 missense variant T/C snv 0.700 1.000 1 2002 2002
dbSNP: rs137852753
rs137852753
3 0.882 0.080 2 202518831 stop gained C/T snv 0.700 1.000 1 2002 2002