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: rs886039815
rs886039815
5 0.851 0.320 3 196306939 splice region variant T/A snv 0.700 0
dbSNP: rs771487311
rs771487311
5 0.882 0.120 11 103255530 missense variant T/C snv 1.9E-05 7.0E-05 0.700 1.000 1 2016 2016