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: rs886039794
rs886039794
8 0.851 0.480 8 85109594 splice acceptor variant G/C snv 0.700 0
dbSNP: rs886039814
rs886039814
13 0.807 0.200 4 39218060 missense variant C/G snv 0.700 0