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: rs199830292
rs199830292
3 0.882 0.120 11 128916630 missense variant G/C snv 1.7E-04 7.7E-05 0.010 1.000 1 2013 2013