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: rs750248338
rs750248338
2 0.925 0.080 18 670857 missense variant C/T snv 4.0E-06 0.010 1.000 1 2018 2018