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: rs730881972
rs730881972
2 1.000 0.080 19 1220395 missense variant G/C;T snv 0.700 1.000 1 2007 2007