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: rs2521501
rs2521501
FES
10 0.925 0.080 15 90894158 intron variant A/C;T snv 0.800 1.000 1 2011 2011
dbSNP: rs2681492
rs2681492
ATP2B1
10 0.925 0.040 12 89619312 intron variant T/C;G snv 0.710 1.000 1 2013 2018
dbSNP: rs28403420
rs28403420
MICALL2
1 7 1444262 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs2932538
rs2932538
MOV10
4 1 112673921 intron variant A/C;G snv 0.810 1.000 1 2011 2013
dbSNP: rs35529250
rs35529250
RBM47
3 4 40426074 missense variant C/G;T snv 1.2E-05; 3.7E-03 0.700 1.000 1 2016 2016
dbSNP: rs3913363
rs3913363
TMEM212 ; LOC105374218
1 3 171936113 intron variant C/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs4373814
rs4373814 		5 10 18131043 intergenic variant G/C;T snv 0.810 1.000 1 2011 2013
dbSNP: rs4462906
rs4462906 		3 3 27551369 upstream gene variant T/A;G snv 0.700 1.000 1 2018 2018
dbSNP: rs4905794
rs4905794
LOC107984696
1 1.000 0.040 14 99013332 intergenic variant G/A;C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs62524579
rs62524579 		4 8 142979538 downstream gene variant G/A;C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs6418
rs6418
CYP11B2 ; GML
4 8 142914947 intron variant A/C;G snv 0.42 0.700 1.000 1 2018 2018
dbSNP: rs7006531
rs7006531 		3 8 94098516 intron variant A/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs7136259
rs7136259
ATP2B1
2 1.000 0.040 12 89687411 intron variant T/A;C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs7168353
rs7168353
LOC101927025
1 15 93095172 intergenic variant G/C;T snv 0.700 1.000 1 2012 2012
dbSNP: rs7297206
rs7297206
ATP2B1
1 12 89625452 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs7526425
rs7526425 		1 1 211527316 regulatory region variant G/A snv 0.700 1.000 1 2011 2011
dbSNP: rs7690819
rs7690819 		3 1.000 0.040 4 111199502 intergenic variant A/G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs78192203
rs78192203
GPR20
3 8 141364973 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs7827545
rs7827545
ZFAT
1 8 134554324 intron variant C/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs79105258
rs79105258
CUX2
23 12 111280427 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs8101673
rs8101673
MYO9B
1 19 17116525 intron variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs891511
rs891511
NOS3
4 7 151007755 intron variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057518797
rs1057518797
PKD2
3 4 88008090 frameshift variant CCCGGGCA/TAGGACG delins 0.700 0
dbSNP: rs1057518856
rs1057518856
PKD1
5 0.882 0.240 16 2102397 missense variant A/T snv 0.700 0
dbSNP: rs1057518899
rs1057518899
PKD1
2 16 2111647 stop gained G/A snv 0.700 0