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: rs1556009247
rs1556009247
7 0.882 X 72490973 missense variant A/C;T snv 0.700 0
dbSNP: rs1556165162
rs1556165162
7 0.882 0.120 X 72572657 frameshift variant GG/- delins 0.700 0