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: rs1273642311
rs1273642311
2 0.925 0.120 14 39320963 missense variant C/G snv 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs36060072
rs36060072
2 0.925 0.120 14 39320945 missense variant C/G;T snv 4.7E-03; 6.0E-05 0.010 1.000 1 2011 2011
dbSNP: rs745607430
rs745607430
2 0.925 0.120 8 32764088 missense variant C/G;T snv 4.0E-06; 1.2E-05 0.010 1.000 1 2011 2011