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: rs10103191
rs10103191
1 8 91890204 intron variant G/A snv 0.58 0.010 1.000 1 2017 2017
dbSNP: rs1170191
rs1170191
1 13 42101357 intron variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1382119307
rs1382119307
1 6 31116450 missense variant C/G snv 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs147634553
rs147634553
1 17 44383518 synonymous variant G/A;T snv 6.5E-05; 4.1E-06 0.010 1.000 1 2005 2005
dbSNP: rs1653625
rs1653625
1 12 121185082 3 prime UTR variant C/A;G snv 0.010 1.000 1 2013 2013
dbSNP: rs1657268
rs1657268
1 7 155082904 intron variant C/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs16940655
rs16940655
1 17 45816520 missense variant C/A;T snv 4.0E-06; 6.4E-03 0.010 1.000 1 2013 2013
dbSNP: rs1801206
rs1801206
1 4 6300980 stop gained C/G;T snv 0.63 0.010 1.000 1 2005 2005
dbSNP: rs1801213
rs1801213
1 4 6291969 synonymous variant C/G snv 0.72 0.68 0.010 1.000 1 2005 2005
dbSNP: rs2167457
rs2167457
PC
1 11 66874925 intron variant C/T snv 0.25 0.010 1.000 1 2017 2017
dbSNP: rs2230739
rs2230739
1 16 3983435 missense variant T/A;C snv 4.4E-06; 0.29 0.010 < 0.001 1 2002 2002
dbSNP: rs2376803
rs2376803
1 1 2036515 intergenic variant C/T snv 0.71 0.010 1.000 1 2010 2010
dbSNP: rs2376805
rs2376805
1 1 2024923 non coding transcript exon variant G/A snv 0.80 0.81 0.010 1.000 1 2010 2010
dbSNP: rs28536160
rs28536160
1 1 206117948 intron variant A/G snv 0.19 0.010 1.000 1 2013 2013
dbSNP: rs3794808
rs3794808
1 17 30204775 intron variant C/T snv 0.43 0.010 1.000 1 2010 2010
dbSNP: rs4131347
rs4131347
1 12 71930591 downstream gene variant G/A;C snv 0.010 1.000 1 2008 2008
dbSNP: rs78809014
rs78809014
1 9 125542973 intron variant C/G snv 5.8E-03 2.2E-03 0.010 1.000 1 2019 2019
dbSNP: rs885861
rs885861
1 7 159028856 3 prime UTR variant G/A snv 0.43 0.010 1.000 1 2010 2010
dbSNP: rs10020288
rs10020288
2 1.000 0.040 4 28686220 intergenic variant G/A snv 0.38 0.700 1.000 1 2018 2018
dbSNP: rs10144845
rs10144845
2 1.000 0.040 14 74771067 intron variant C/T snv 0.62 0.700 1.000 1 2018 2018
dbSNP: rs10156548
rs10156548
2 1.000 0.040 9 23318435 intron variant G/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs10405382
rs10405382
2 1.000 0.040 19 32405810 5 prime UTR variant C/G snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs10429537
rs10429537
2 1.000 0.040 9 23346844 intron variant C/G snv 0.33 0.700 1.000 1 2018 2018
dbSNP: rs1055447
rs1055447
2 1.000 0.040 11 47164873 3 prime UTR variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs10891564
rs10891564
2 1.000 0.040 11 113503291 intergenic variant G/A snv 0.34 0.700 1.000 1 2018 2018