rs121434326

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs121434326(C;C)

Make rs121434326(C;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

60902446

Gene

ERCC8

is a	snp
is	mentioned by
dbSNP	rs121434326
dbSNP (classic)	rs121434326
ClinGen	rs121434326
ebi	rs121434326
HLI	rs121434326
Exac	rs121434326
Gnomad	rs121434326
Varsome	rs121434326
LitVar	rs121434326
Map	rs121434326
PheGenI	rs121434326
Biobank	rs121434326
1000 genomes	rs121434326
hgdp	rs121434326
ensembl	rs121434326
geneview	rs121434326
scholar	rs121434326
google	rs121434326
pharmgkb	rs121434326
gwascentral	rs121434326
openSNP	rs121434326
23andMe	rs121434326
SNPshot	rs121434326
SNPdbe	rs121434326
MSV3d	rs121434326
GWAS Ctlg	rs121434326

Max Magnitude

0

OMIM	609412
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121434326(C;C)
Alt	rs121434326(C;C)
Reference	Rs121434326(G;G)
Significance	Pathogenic
Disease	Cockayne syndrome type A not provided
Variation	info
Gene	ERCC8
CLNDBN	Cockayne syndrome type A not provided
Reversed	1
HGVS	NC_000005.9:g.60198273C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000001788.3, RCV000059650.1,

[PMID 14661080] CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism.