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: rs119103229
rs119103229
2 0.925 0.120 21 36765170 missense variant G/A snv 2.8E-05 0.010 1.000 1 2003 2003