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: rs5746841
rs5746841
2 0.925 0.040 22 19878161 missense variant C/A snv 0.010 < 0.001 1 2019 2019