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: rs1019340046
rs1019340046
4 0.882 0.080 17 7674225 missense variant C/T snv 0.010 < 0.001 1 1993 1993