Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434325
rs121434325
ERCC8
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		A 0.800 CausalMutation CLINVAR

dbSNP: rs281875221
rs281875221
ERCC8
CUI: C3553298
Disease: UV-SENSITIVE SYNDROME 2
UV-SENSITIVE SYNDROME 2 		A 0.800 CausalMutation CLINVAR

dbSNP: rs121434324
rs121434324
ERCC8 ; NDUFAF2
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		A 0.710 CausalMutation CLINVAR Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250

2010
dbSNP: rs1043679457
rs1043679457
ERCC8
CUI: C1857644
Disease: Retinal pigment epithelial mottling
Retinal pigment epithelial mottling 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1043679457
rs1043679457
ERCC8
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1043679457
rs1043679457
ERCC8
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1043679457
rs1043679457
ERCC8
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1043679457
rs1043679457
ERCC8
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1043679457
rs1043679457
ERCC8
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1043679457
rs1043679457
ERCC8
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1043679457
rs1043679457
ERCC8
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1043679457
rs1043679457
ERCC8
CUI: C0003079
Disease: Anisocoria
Anisocoria 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1043679457
rs1043679457
ERCC8
CUI: C2673431
Disease: Abnormality of the periventricular white matter
Abnormality of the periventricular white matter 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1043679457
rs1043679457
ERCC8
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1043679457
rs1043679457
ERCC8
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1043679457
rs1043679457
ERCC8
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1043679457
rs1043679457
ERCC8
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1043679457
rs1043679457
ERCC8
CUI: C4025692
Disease: Abnormality of calvarial morphology
Abnormality of calvarial morphology 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1043679457
rs1043679457
ERCC8
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1043679457
rs1043679457
ERCC8
CUI: C4021755
Disease: Abnormality of midbrain morphology
Abnormality of midbrain morphology 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1043679457
rs1043679457
ERCC8
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1043679457
rs1043679457
ERCC8
CUI: C0277960
Disease: Dry hair
Dry hair 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1043679457
rs1043679457
ERCC8
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1043679457
rs1043679457
ERCC8
CUI: C0426415
Disease: Large nose
Large nose 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1043679457
rs1043679457
ERCC8
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		G 0.700 CausalMutation CLINVAR