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: rs267607060
rs267607060
1 1.000 0.040 1 42930858 missense variant GA/AT mnv 0.800 1.000 9 2003 2011