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: rs35152987
rs35152987
HBD
4 0.925 0.080 11 5234352 missense variant C/A;T snv 2.2E-03 0.010 1.000 1 2019 2019