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: rs28688791
rs28688791
1 7 18999982 3 prime UTR variant T/A;C snv 0.020 1.000 2 2018 2019
dbSNP: rs556621
rs556621
2 1.000 6 44626422 intergenic variant T/G snv 0.73 0.820 1.000 2 2012 2017
dbSNP: rs1003346
rs1003346
2 1.000 9 109053060 intron variant C/A snv 0.43 0.010 1.000 1 2013 2013
dbSNP: rs10089084
rs10089084
1 8 39912430 intron variant G/C snv 0.30 0.010 1.000 1 2019 2019
dbSNP: rs10478723
rs10478723
1 6 12295228 intron variant G/A snv 0.15 0.010 1.000 1 2009 2009
dbSNP: rs10848683
rs10848683
1 12 2681964 missense variant C/T snv 4.0E-06; 0.78 0.71 0.010 1.000 1 2018 2018
dbSNP: rs11030119
rs11030119
1 11 27706555 intron variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs11072518
rs11072518
1 15 74942269 upstream gene variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs112896372
rs112896372
1 5 3756587 intergenic variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs1132896
rs1132896
1 16 55485623 synonymous variant G/C snv 0.31 0.26 0.010 1.000 1 2018 2018
dbSNP: rs11628722
rs11628722
1 14 94464768 missense variant A/G snv 0.78 0.71 0.010 1.000 1 2008 2008
dbSNP: rs11670734
rs11670734
1 19 29580124 intergenic variant C/G snv 0.63 0.010 1.000 1 2009 2009
dbSNP: rs1290267513
rs1290267513
1 10 113146078 missense variant G/A snv 4.0E-06 7.1E-06 0.010 1.000 1 2011 2011
dbSNP: rs147565266
rs147565266
1 2 187446788 intron variant T/A snv 2.1E-05 0.010 1.000 1 2017 2017
dbSNP: rs1480544
rs1480544
1 4 170066485 splice region variant A/G;T snv 0.57; 4.0E-04 0.010 1.000 1 2019 2019
dbSNP: rs1555729486
rs1555729486
1 1.000 19 15192118 missense variant C/A;T snv 0.010 1.000 1 2004 2004
dbSNP: rs1800542
rs1800542
1 6 12292295 intron variant G/A snv 5.6E-02 0.11 0.010 1.000 1 2009 2009
dbSNP: rs1952706
rs1952706
1 14 36205321 intergenic variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs202680
rs202680
1 11 49200333 synonymous variant T/A snv 0.31 0.37 0.010 1.000 1 2010 2010
dbSNP: rs2073824
rs2073824
ABO
1 9 133257246 intron variant A/G snv 0.40 0.010 1.000 1 2017 2017
dbSNP: rs2074633
rs2074633
1 7 18996297 3 prime UTR variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs2132572
rs2132572
3 1.000 7 45921946 upstream gene variant T/C snv 0.79 0.010 1.000 1 2017 2017
dbSNP: rs215976
rs215976
1 12 2585472 missense variant C/G;T snv 0.11 0.010 1.000 1 2018 2018
dbSNP: rs2285489
rs2285489
2 9 133424254 intron variant T/C snv 0.68 0.010 1.000 1 2016 2016
dbSNP: rs229961
rs229961
1 5 57690889 regulatory region variant T/C snv 0.87 0.010 1.000 1 2018 2018