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: rs746700511
rs746700511
4 0.851 0.080 22 37665657 missense variant T/C snv 4.0E-06 0.010 < 0.001 1 2018 2018