Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs201464610
rs201464610
ERCC8
1.000 0.160 5 60899728 splice acceptor variant C/A;T snv 4.0E-06; 1.2E-05
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.700 1.000 2 2006 2016
dbSNP: rs1468231556
rs1468231556
ERCC8
1.000 0.160 5 60902458 frameshift variant -/A delins 1.4E-05
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.700 1.000 1 2012 2012
dbSNP: rs1554073316
rs1554073316
ERCC8
1.000 0.160 5 60902509 splice acceptor variant C/T snv
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.700 1.000 1 2010 2010
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		0.700 0
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C0426415
Disease: Large nose
Large nose 		0.700 0
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C1857644
Disease: Retinal pigment epithelial mottling
Retinal pigment epithelial mottling 		0.700 0
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		0.700 0
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C0277960
Disease: Dry hair
Dry hair 		0.700 0
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		0.700 0
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C0003079
Disease: Anisocoria
Anisocoria 		0.700 0
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		0.700 0
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C4025692
Disease: Abnormality of calvarial morphology
Abnormality of calvarial morphology 		0.700 0
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		0.700 0
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.700 0
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.700 0
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		0.700 0
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C4551520
Disease: Intention tremor
Intention tremor 		0.700 0
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C2673431
Disease: Abnormality of the periventricular white matter
Abnormality of the periventricular white matter 		0.700 0
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		0.700 0
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.700 0
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		0.700 0
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		0.700 0
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		0.700 0
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		0.700 0