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: rs121909208
rs121909208
13 0.724 0.240 5 136056780 missense variant C/T snv 7.0E-06 0.020 1.000 2 2003 2017