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: rs367722824
rs367722824
2 1.000 0.120 4 54278512 missense variant G/A snv 8.0E-06 2.1E-05 0.010 1.000 1 2015 2015