Source: CURATED ×
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: rs10952362
rs10952362 		1 1.000 0.120 7 152565713 regulatory region variant T/C snv 0.25 0.700 1.000 1 2015 2015
dbSNP: rs1249910
rs1249910 		1 1.000 0.120 3 112672327 intergenic variant A/G snv 0.58 0.700 1.000 1 2015 2015
dbSNP: rs12523822
rs12523822 		1 1.000 0.120 6 154633286 intergenic variant C/G;T snv 0.710 1.000 1 2015 2015
dbSNP: rs16996381
rs16996381 		1 1.000 0.120 22 36115231 intergenic variant G/A snv 0.31 0.700 1.000 1 2011 2011
dbSNP: rs955333
rs955333 		1 0.882 0.240 6 154626274 intergenic variant A/G snv 0.13 0.710 1.000 1 2015 2017
dbSNP: rs9942471
rs9942471 		2 0.925 0.160 6 89238513 intergenic variant A/C snv 0.37 0.710 1.000 1 2018 2018
dbSNP: rs136161
rs136161
APOL1
1 0.925 0.160 22 36261386 intron variant G/C snv 0.51 0.700 1.000 1 2015 2015
dbSNP: rs39075
rs39075
CHN2
1 1.000 0.120 7 29237076 intron variant G/A snv 0.41 0.700 1.000 1 2009 2009
dbSNP: rs5749286
rs5749286
DRG1 ; SFI1
1 1.000 0.120 22 31504373 intron variant C/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs9533481
rs9533481
ENOX1
1 1.000 0.120 13 43415049 intron variant T/C snv 0.78 0.700 1.000 1 2011 2011
dbSNP: rs10868025
rs10868025
FRMD3
1 1.000 0.120 9 83549261 intergenic variant A/G snv 0.30 0.700 1.000 1 2009 2009
dbSNP: rs1888747
rs1888747
FRMD3
1 1.000 0.120 9 83540636 upstream gene variant C/G snv 0.78 0.700 1.000 1 2009 2009
dbSNP: rs7916840
rs7916840
GPR158
2 0.925 0.160 10 25424152 intron variant A/T snv 0.70 0.700 1.000 1 2018 2018
dbSNP: rs10019835
rs10019835
GUCY1A1
1 1.000 0.120 4 155712034 intron variant T/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs304029
rs304029
ITPR1
1 1.000 0.120 3 4504140 intron variant A/C snv 0.35 0.700 1.000 1 2015 2015
dbSNP: rs2780902
rs2780902
JAK1
1 1.000 0.120 1 64863417 intron variant C/T snv 0.35 0.700 1.000 1 2015 2015
dbSNP: rs4667466
rs4667466
KCNH7
1 1.000 0.120 2 162832637 intron variant T/C snv 0.52 0.700 1.000 1 2015 2015
dbSNP: rs7222331
rs7222331
KRTAP3-3
3 0.925 0.120 17 40995605 upstream gene variant C/T snv 0.24 0.700 1.000 1 2018 2018
dbSNP: rs17809399
rs17809399
LARGE1
1 1.000 0.120 22 33861145 intron variant G/A snv 0.21 0.700 1.000 1 2011 2011
dbSNP: rs5749682
rs5749682
LARGE1
1 1.000 0.120 22 33852326 intron variant C/A snv 0.17 0.700 1.000 1 2011 2011
dbSNP: rs4820043
rs4820043
LIMK2
1 1.000 0.120 22 31251108 intron variant A/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs1298908
rs1298908
LOC100130698
1 1.000 0.120 10 80253378 non coding transcript exon variant C/T snv 0.48 0.53 0.700 1.000 1 2015 2015
dbSNP: rs117897666
rs117897666
LOC105370892
3 0.882 0.160 15 73811619 intergenic variant C/T snv 0.700 1.000 1 2018 2018
dbSNP: rs73206603
rs73206603
LOC107984625
3 0.882 0.160 13 59495931 regulatory region variant G/C snv 4.2E-02 0.700 1.000 1 2018 2018
dbSNP: rs5750250
rs5750250
MYH9
1 1.000 0.120 22 36312438 intron variant G/A;T snv 0.700 1.000 1 2015 2015