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: rs1229030855
rs1229030855
4 0.925 0.080 12 56428321 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs2291739
rs2291739
6 0.925 0.080 12 56420869 missense variant G/A;C snv 0.49; 4.0E-06 0.010 1.000 1 2016 2016