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: rs752295912
rs752295912
6 0.925 0.080 17 39710398 missense variant C/T snv 1.6E-05 0.010 1.000 1 2018 2018