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: rs7868992
rs7868992
1 1.000 0.120 9 114228791 intron variant G/A snv 0.63 0.810 1.000 2 2013 2015
dbSNP: rs2708146
rs2708146
1 1.000 0.120 2 58728818 intron variant A/G snv 0.47 0.710 1.000 2 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: rs10846381
rs10846381
1 1.000 0.120 12 16599165 non coding transcript exon variant A/T snv 0.46 0.700 1.000 1 2019 2019
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: 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: rs12459560
rs12459560
1 1.000 0.120 19 51815127 intron variant G/T snv 0.14 0.700 1.000 1 2019 2019
dbSNP: rs13407215
rs13407215
1 1.000 0.120 2 160688380 intergenic variant C/T snv 4.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs150975336
rs150975336
1 1.000 0.120 19 8995481 intergenic variant C/G snv 2.7E-02 0.700 1.000 1 2019 2019
dbSNP: rs1906252
rs1906252
3 0.925 0.120 6 98102413 intron variant C/A;T snv 0.700 1.000 1 2019 2019
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: rs2504235
rs2504235
1 1.000 0.120 13 28038749 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs4047771
rs4047771
1 1.000 0.120 4 177549744 intron variant A/C snv 0.28 0.700 1.000 1 2019 2019
dbSNP: rs4271390
rs4271390
2 0.925 0.120 11 119655426 intron variant T/C snv 0.68 0.700 1.000 1 2015 2015
dbSNP: rs4988462
rs4988462
2 0.925 0.120 3 87264203 intron variant C/T snv 0.31 0.700 1.000 1 2015 2015
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: rs9357271
rs9357271
8 0.776 0.160 6 38398097 intron variant T/C snv 0.38 0.030 1.000 3 2009 2014
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: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.020 1.000 2 2006 2015
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.020 0.500 2 2010 2016
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: rs9296249
rs9296249
3 0.882 0.120 6 38398065 intron variant T/C snv 0.30 0.020 1.000 2 2012 2014
dbSNP: rs1013940
rs1013940
6 0.827 0.160 2 107992192 missense variant A/G snv 9.3E-02 7.4E-02 0.010 1.000 1 2017 2017
dbSNP: rs1049353
rs1049353
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 0.010 1.000 1 2004 2004