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: rs587777805
rs587777805
1 1.000 3 97784966 missense variant C/G;T snv 5.2E-05 0.800 1.000 1 2009 2009
dbSNP: rs1559679965
rs1559679965
2 0.925 0.120 3 97780221 splice donor variant G/C snv 0.700 1.000 1 2004 2004