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: rs62635045
rs62635045
2 0.925 0.160 X 9741349 missense variant A/C snv 0.700 1.000 1 1995 1995
dbSNP: rs62635042
rs62635042
1 1.000 0.160 X 9741444 missense variant T/A;C snv 0.700 0