rs121434323

Orientation

minus

Stabilized

minus

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

Make rs121434323(A;A)

Make rs121434323(A;C)

Reference

GRCh38 38.1/141

Chromosome

5

Position

60890964

Gene

ERCC8

is a	snp
is	mentioned by
dbSNP	rs121434323
dbSNP (classic)	rs121434323
ClinGen	rs121434323
ebi	rs121434323
HLI	rs121434323
Exac	rs121434323
Gnomad	rs121434323
Varsome	rs121434323
LitVar	rs121434323
Map	rs121434323
PheGenI	rs121434323
Biobank	rs121434323
1000 genomes	rs121434323
hgdp	rs121434323
ensembl	rs121434323
geneview	rs121434323
scholar	rs121434323
google	rs121434323
pharmgkb	rs121434323
gwascentral	rs121434323
openSNP	rs121434323
23andMe	rs121434323
SNPshot	rs121434323
SNPdbe	rs121434323
MSV3d	rs121434323
GWAS Ctlg	rs121434323

Max Magnitude

0

OMIM	609412
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121434323(A;A)
Alt	rs121434323(A;A)
Reference	Rs121434323(C;C)
Significance	Pathogenic
Disease	Cockayne syndrome type A
Variation	info
Gene	ERCC8
CLNDBN	Cockayne syndrome type A
Reversed	1
HGVS	NC_000005.9:g.60186791G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001785.3,