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: rs121912678
rs121912678
8 0.851 0.080 2 157774114 missense variant C/G;T snv 0.020 1.000 2 2009 2020