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: rs148000791
rs148000791
2 0.925 0.120 6 135323233 missense variant T/C snv 3.8E-03 1.2E-03 0.010 1.000 1 2017 2017