rs121913028

Orientation

minus

Stabilized

minus

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

Make rs121913028(C;G)

Make rs121913028(G;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

45414870

Gene

ERCC1

is a	snp
is	mentioned by
dbSNP	rs121913028
dbSNP (classic)	rs121913028
ClinGen	rs121913028
ebi	rs121913028
HLI	rs121913028
Exac	rs121913028
Gnomad	rs121913028
Varsome	rs121913028
LitVar	rs121913028
Map	rs121913028
PheGenI	rs121913028
Biobank	rs121913028
1000 genomes	rs121913028
hgdp	rs121913028
ensembl	rs121913028
geneview	rs121913028
scholar	rs121913028
google	rs121913028
pharmgkb	rs121913028
gwascentral	rs121913028
openSNP	rs121913028
23andMe	rs121913028
SNPshot	rs121913028
SNPdbe	rs121913028
MSV3d	rs121913028
GWAS Ctlg	rs121913028

Max Magnitude

0

OMIM	126380
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121913028(G;G) rs121913028(T;T)
Alt	rs121913028(G;G) rs121913028(T;T)
Reference	Rs121913028(C;C)
Significance	Pathogenic
Disease	Cerebrooculofacioskeletal syndrome 4 Cockayne syndrome
Variation	info
Gene	ERCC1
CLNDBN	Cerebrooculofacioskeletal syndrome 4 Cockayne syndrome
Reversed	1
HGVS	NC_000019.9:g.45918128G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018266.31, RCV000252117.1,