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: rs6523
rs6523
4 0.882 0.200 19 17821329 missense variant T/C snv 0.65 0.70 0.030 0.667 3 2000 2019