Source: CLINVAR ×
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: 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: rs869320713
rs869320713
ZMYND11 ; LOC107984190
6 0.851 0.120 10 248370 missense variant G/A snv 0.700 1.000 1 2014 2014
dbSNP: rs1554817910
rs1554817910
ZMIZ1
4 1.000 10 79216266 missense variant A/G snv 0.700 1.000 1 2019 2019
dbSNP: rs730882215
rs730882215
WWOX
4 0.882 0.040 16 78424869 splice acceptor variant G/A snv 4.0E-06 0.700 0
dbSNP: rs771409809
rs771409809
WFS1
19 0.732 0.480 4 6301794 stop gained C/T snv 6.0E-05 7.0E-06 0.700 0
dbSNP: rs387907329
rs387907329
WDR45 ; PRAF2
10 0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06 0.700 0
dbSNP: rs386834070
rs386834070
VPS13B
9 0.851 0.360 8 99134644 stop gained C/T snv 0.700 0
dbSNP: rs747824231
rs747824231
VARS1
4 0.882 0.040 6 31782361 missense variant C/G;T snv 4.1E-06 0.700 0
dbSNP: rs763777257
rs763777257
VARS1
4 0.882 0.040 6 31785269 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs1064794254
rs1064794254
UPF3B
6 0.851 0.120 X 119841185 frameshift variant CT/- delins 0.700 1.000 3 2007 2012
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 1.000 1 2018 2018
dbSNP: rs1057518770
rs1057518770
UBE3A ; SNHG14
6 1.000 15 25354536 missense variant C/T snv 0.700 0
dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
62 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 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: rs797045074
rs797045074
TUBB4A
7 0.882 0.120 19 6495335 missense variant C/G;T snv 0.700 0
dbSNP: rs1135401758
rs1135401758
TUBB2B
4 0.882 0.080 6 3227511 missense variant C/G snv 0.700 0
dbSNP: rs730882212
rs730882212
TUBA3E
4 0.851 0.120 2 130194199 missense variant G/A snv 7.2E-05; 4.0E-06 4.2E-05 0.700 0
dbSNP: rs587784491
rs587784491
TUBA1A
4 0.925 0.240 12 49186832 missense variant C/T snv 0.700 0
dbSNP: rs181109321
rs181109321
TTPA
15 0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05 0.700 0
dbSNP: rs113994152
rs113994152
TSEN54
9 0.790 0.160 17 75522000 missense variant G/T snv 9.0E-04 9.0E-04 0.700 0