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: rs1554774973
rs1554774973
2 1.000 0.120 9 84955504 missense variant C/T snv 0.800 1.000 3 2004 2017
dbSNP: rs121434633
rs121434633
2 0.925 0.120 9 84955510 missense variant A/G snv 0.800 0
dbSNP: rs1085308029
rs1085308029
1 1.000 0.120 9 84752019 stop gained G/T snv 0.700 0