Source: ALL
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: rs761104644
rs761104644
ZNF415
2 19 53109614 missense variant A/G snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1554208945
rs1554208945
ZNF292
26 0.752 0.240 6 87260207 missense variant A/C snv 0.700 0
dbSNP: rs1447313633
rs1447313633
ZNF142
4 1.000 2 218649090 frameshift variant TT/- del 0.700 1.000 1 2019 2019
dbSNP: rs1559296368
rs1559296368
ZNF142
4 1.000 2 218646330 frameshift variant C/- del 0.700 1.000 1 2019 2019
dbSNP: rs546151500
rs546151500
ZNF142
5 0.925 0.080 2 218643341 stop gained G/A;T snv 8.0E-06; 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs34757931
rs34757931
VPS11
26 0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 0.700 0
dbSNP: rs1269252748
rs1269252748
VLDLR ; VLDLR-AS1
4 9 2641436 missense variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs1553621496
rs1553621496
UNC80
53 0.677 0.440 2 209976305 splice donor variant T/G snv 0.700 0
dbSNP: rs1555582065
rs1555582065
UBTF ; LOC101926967
13 0.827 0.160 17 44212851 missense variant C/T snv 0.700 0
dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
64 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
dbSNP: rs1553770577
rs1553770577
UBA5 ; NPHP3-ACAD11
37 0.724 0.480 3 132675342 missense variant T/C snv 0.700 0
dbSNP: rs374052333
rs374052333
UBA5 ; NPHP3-ACAD11
27 0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs748787734
rs748787734
TUBB4A
13 0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05 0.700 1.000 1 2014 2014
dbSNP: rs1569151872
rs1569151872
TSPEAR-AS1 ; TSPEAR
14 0.851 0.240 21 44509225 frameshift variant GAC/AA delins 0.700 1.000 1 2016 2016
dbSNP: rs139455627
rs139455627
TSPEAR
14 0.851 0.240 21 44531087 stop gained G/A snv 3.2E-04 2.7E-04 0.700 1.000 1 2016 2016
dbSNP: rs727502811
rs727502811
TOR1A
6 0.882 0.080 9 129814108 missense variant C/T snv 9.1E-05 6.3E-05 0.030 1.000 3 2008 2014
dbSNP: rs1182
rs1182
TOR1A
9 0.790 0.160 9 129813781 3 prime UTR variant C/A snv 0.17 0.020 1.000 2 2009 2015
dbSNP: rs1801968
rs1801968
TOR1A
7 0.827 0.040 9 129818622 missense variant C/G;T snv 0.13; 4.0E-06 0.020 0.500 2 2013 2017
dbSNP: rs3842225
rs3842225
TOR1A
6 0.882 0.120 9 129813148 3 prime UTR variant C/- del 0.16 0.020 0.500 2 2015 2017
dbSNP: rs80358233
rs80358233
TOR1A
2 1.000 0.080 9 129814062 inframe deletion CTC/- delins 4.9E-05 0.700 1.000 2 1997 1998
dbSNP: rs142909469
rs142909469
TOR1A
2 9 129818877 missense variant G/A;C snv 3.0E-04; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1476648522
rs1476648522
TOR1A
2 9 129814009 missense variant G/A snv 8.0E-06; 1.2E-05 3.5E-05 0.010 1.000 1 2016 2016
dbSNP: rs35153737
rs35153737
TOR1A
2 9 129813558 3 prime UTR variant C/- del 0.14 0.010 1.000 1 2017 2017
dbSNP: rs146087734
rs146087734
THAP1
2 8 42843038 synonymous variant G/A snv 7.6E-05 1.5E-04 0.010 1.000 1 2010 2010
dbSNP: rs374512193
rs374512193
THAP1
4 0.925 0.120 8 42838177 missense variant T/C snv 5.2E-05 5.6E-05 0.010 1.000 1 2017 2017