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: rs397514668
rs397514668
1 1.000 0.080 20 35434276 missense variant C/T snv 4.0E-06 0.810 1.000 3 2005 2012
dbSNP: rs121434418
rs121434418
1 1.000 0.080 4 95154620 missense variant C/T snv 0.810 1.000 2 2003 2006
dbSNP: rs121434419
rs121434419
2 0.925 0.080 4 95154621 missense variant G/A snv 0.810 1.000 2 2003 2006
dbSNP: rs121434417
rs121434417
1 1.000 0.080 4 95129875 missense variant T/A snv 0.800 1.000 2 2003 2006
dbSNP: rs28936683
rs28936683
3 0.882 0.080 20 35434093 missense variant A/G snv 7.0E-06 0.800 0
dbSNP: rs1553941890
rs1553941890
4 0.851 0.080 4 95129916 missense variant C/A snv 0.700 0
dbSNP: rs140047318
rs140047318
3 0.882 0.080 4 95152757 missense variant G/A;C;T snv 1.6E-05; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs780280883
rs780280883
1 1.000 0.080 4 95152756 missense variant C/A;G;T snv 4.0E-06; 1.4E-04 0.010 1.000 1 2006 2006