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: rs770027749
rs770027749
2 0.925 0.120 22 28795623 missense variant C/A;G snv 8.0E-06 0.010 1.000 1 2009 2009