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: rs4994
rs4994
44 0.605 0.536 8 37966280 missense variant A/G snp 0.11 9.0E-02 0.030 1.000 3 2010 2014
dbSNP: rs121907892
rs121907892
3 0.878 0.179 11 64593747 stop gained G/A,C snp 2.8E-04 9.6E-05 0.020 1.000 2 2016 2016
dbSNP: rs1137070
rs1137070
2 0.923 0.071 X 43744144 synonymous variant T/C snp 0.62 0.65 0.010 1.000 1 2010 2010
dbSNP: rs11602903
rs11602903
3 0.878 0.107 11 64590769 5 prime UTR variant A/T snp 0.50 0.010 1.000 1 2016 2016
dbSNP: rs12218
rs12218
2 0.923 0.071 11 18269774 synonymous variant T/C snp 0.42 0.37 0.010 1.000 1 2012 2012
dbSNP: rs12979860
rs12979860
47 0.608 0.500 19 39248147 intron variant C/T snp 0.38 0.010 1.000 1 2012 2012
dbSNP: rs1529909
rs1529909
1 1.000 0.036 11 64598471 intron variant T/A,C snp 6.5E-06; 0.57 0.50 0.010 1.000 1 2016 2016
dbSNP: rs189660050
rs189660050
1 1.000 0.036 17 39870781 missense variant C/T snp 2.8E-05 6.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs2231142
rs2231142
29 0.642 0.464 4 88131171 missense variant G/C,T snp 4.0E-06; 0.12 9.4E-02 0.010 1.000 1 2013 2013
dbSNP: rs2941484
rs2941484
2 1.000 0.036 8 75566533 3 prime UTR variant C/T snp 0.52 0.010 1.000 1 2018 2018
dbSNP: rs3825016
rs3825016
2 1.000 0.036 11 64591814 synonymous variant C/T snp 0.57 0.50 0.010 1.000 1 2016 2016
dbSNP: rs3825017
rs3825017
1 1.000 0.036 11 64591802 synonymous variant C/A,T snp 4.0E-06; 3.7E-02 2.1E-02 0.010 1.000 1 2016 2016
dbSNP: rs6837293
rs6837293
2 0.923 0.143 4 81141777 intron variant C/A,T snp 0.36 0.010 1.000 1 2009 2009
dbSNP: rs727502862
rs727502862
1 1.000 0.036 17 44399142 missense variant C/G,T snp 0.010 1.000 1 2011 2011
dbSNP: rs75786299
rs75786299
1 1.000 0.036 11 64593570 intron variant G/A snp 9.4E-04 3.8E-04 0.010 1.000 1 2016 2016
dbSNP: rs763059810
rs763059810
20 0.707 0.464 2 136115750 missense variant T/C snp 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs76863441
rs76863441
16 0.715 0.286 6 46709361 missense variant C/A snp 4.5E-03 2.0E-03 0.010 1.000 1 2004 2004
dbSNP: rs7688672
rs7688672
2 0.923 0.143 4 81148295 intron variant G/A snp 0.36 0.010 1.000 1 2009 2009
dbSNP: rs7929627
rs7929627
1 1.000 0.036 11 64600264 intron variant A/G snp 0.35 0.010 1.000 1 2016 2016
dbSNP: rs7932775
rs7932775
1 1.000 0.036 11 64600390 missense variant T/C,G snp 0.26 0.35 0.010 1.000 1 2010 2010