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: rs10974944
rs10974944
4 0.882 0.160 9 5070831 intron variant C/G snv 0.25 0.810 1.000 2 2009 2010
dbSNP: rs77375493
rs77375493
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.800 0.970 263 2005 2019
dbSNP: rs1057519721
rs1057519721
4 0.882 0.120 9 5078360 missense variant A/G snv 0.700 1.000 1 2010 2010
dbSNP: rs1057520016
rs1057520016
5 0.851 0.080 9 5089726 missense variant C/A;T snv 0.700 1.000 1 2010 2010
dbSNP: rs12339666
rs12339666
3 0.925 0.080 9 5063296 intron variant G/T snv 0.34 0.700 1.000 1 2015 2015
dbSNP: rs368927897
rs368927897
9 0.790 0.240 9 5072541 missense variant G/A;T snv 2.8E-05; 6.4E-05 0.700 1.000 1 2007 2007
dbSNP: rs12343867
rs12343867
9 0.790 0.200 9 5074189 intron variant T/C snv 0.25 0.010 1.000 1 2010 2010
dbSNP: rs1319313254
rs1319313254
1 9 5050807 missense variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs182123615
rs182123615
7 0.807 0.200 9 5070058 splice region variant T/C snv 3.6E-04 1.1E-03 0.010 1.000 1 2016 2016
dbSNP: rs4495487
rs4495487
3 0.925 0.080 9 5072798 intron variant T/C snv 0.23 0.010 1.000 1 2012 2012