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: rs61752115
rs61752115
7 0.807 0.320 2 61048535 missense variant T/C snv 4.0E-06 0.020 1.000 2 1999 2005
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.020 1.000 2 2006 2015
dbSNP: rs11149058
rs11149058
2 0.925 0.120 13 76978136 downstream gene variant T/A;C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs1805404
rs1805404
3 0.882 0.200 1 226402257 missense variant G/A;C snv 0.22; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1906252
rs1906252
3 0.925 0.120 6 98102413 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2504235
rs2504235
1 1.000 0.120 13 28038749 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs267606861
rs267606861
HDC
1 1.000 0.120 15 50252520 stop gained C/T snv 0.710 1.000 1 2012 2012
dbSNP: rs28365054
rs28365054
1 1.000 0.120 14 89963514 missense variant G/A;C snv 3.9E-02; 6.6E-05 0.010 1.000 1 2013 2013
dbSNP: rs28914832
rs28914832
3 0.925 0.120 17 30211356 missense variant T/C;G snv 7.4E-04 0.010 1.000 1 2013 2013
dbSNP: rs315952
rs315952
10 0.763 0.400 2 113132727 missense variant T/A;C snv 4.0E-06; 0.31 0.010 < 0.001 1 2015 2015
dbSNP: rs3793798
rs3793798
1 1.000 0.120 10 49663420 intron variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs3813929
rs3813929
5 0.851 0.240 X 114584047 upstream gene variant C/G;T snv 0.010 < 0.001 1 2012 2012
dbSNP: rs4979356
rs4979356
1 1.000 0.120 9 114228704 intron variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs4979357
rs4979357
1 1.000 0.120 9 114228715 intron variant T/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs518147
rs518147
7 0.807 0.200 X 114584109 5 prime UTR variant C/A;G snv 0.010 < 0.001 1 2012 2012
dbSNP: rs5569
rs5569
19 0.742 0.280 16 55697923 synonymous variant G/A;C snv 0.31; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs746682028
rs746682028
36 0.645 0.480 11 27658414 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs779610480
rs779610480
1 1.000 0.120 13 83880800 synonymous variant G/A;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs191284403
rs191284403
1 1.000 0.120 13 83878728 3 prime UTR variant C/A;T snv 0.700 0
dbSNP: rs193302861
rs193302861
2 0.925 0.120 13 83880244 frameshift variant G/- delins 0.700 0
dbSNP: rs1800044
rs1800044
8 0.827 0.200 5 63961061 missense variant C/A snv 3.7E-03 3.8E-03 0.010 1.000 1 1996 1996
dbSNP: rs191044310
rs191044310
1 1.000 0.120 10 23416522 intergenic variant T/A snv 1.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs117648881
rs117648881
1 1.000 0.120 8 112569669 intron variant G/A snv 1.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs2032892
rs2032892
1 1.000 0.120 5 36676981 missense variant G/C snv 2.5E-02 1.9E-02 0.010 1.000 1 2011 2011
dbSNP: rs2289664
rs2289664
2 0.925 0.120 18 27952340 missense variant T/C snv 2.5E-02 2.0E-02 0.010 1.000 1 2013 2013