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: rs750429448
rs750429448
2 0.925 0.120 6 137493543 missense variant G/A;C snv 5.2E-06 0.010 1.000 1 2018 2018