rs121913027

Orientation

minus

Stabilized

minus

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

Make rs121913027(C;T)

Make rs121913027(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

45419151

Gene

ERCC1

is a	snp
is	mentioned by
dbSNP	rs121913027
dbSNP (classic)	rs121913027
ClinGen	rs121913027
ebi	rs121913027
HLI	rs121913027
Exac	rs121913027
Gnomad	rs121913027
Varsome	rs121913027
LitVar	rs121913027
Map	rs121913027
PheGenI	rs121913027
Biobank	rs121913027
1000 genomes	rs121913027
hgdp	rs121913027
ensembl	rs121913027
geneview	rs121913027
scholar	rs121913027
google	rs121913027
pharmgkb	rs121913027
gwascentral	rs121913027
openSNP	rs121913027
23andMe	rs121913027
SNPshot	rs121913027
SNPdbe	rs121913027
MSV3d	rs121913027
GWAS Ctlg	rs121913027

Max Magnitude

0

OMIM	126380
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121913027(T;T)
Alt	rs121913027(T;T)
Reference	Rs121913027(C;C)
Significance	Pathogenic
Disease	Cerebrooculofacioskeletal syndrome 4
Variation	info
Gene	ERCC1
CLNDBN	Cerebrooculofacioskeletal syndrome 4
Reversed	1
HGVS	NC_000019.9:g.45922409G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018265.29,