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: rs148038848
rs148038848
1 1.000 0.040 22 39521605 missense variant G/A snv 8.0E-06 0.010 1.000 1 2019 2019