rs121913024

Orientation

minus

Stabilized

minus

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

Make rs121913024(C;T)

Make rs121913024(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

45352802

Gene

ERCC2

is a	snp
is	mentioned by
dbSNP	rs121913024
dbSNP (classic)	rs121913024
ClinGen	rs121913024
ebi	rs121913024
HLI	rs121913024
Exac	rs121913024
Gnomad	rs121913024
Varsome	rs121913024
LitVar	rs121913024
Map	rs121913024
PheGenI	rs121913024
Biobank	rs121913024
1000 genomes	rs121913024
hgdp	rs121913024
ensembl	rs121913024
geneview	rs121913024
scholar	rs121913024
google	rs121913024
pharmgkb	rs121913024
gwascentral	rs121913024
openSNP	rs121913024
23andMe	rs121913024
SNPshot	rs121913024
SNPdbe	rs121913024
MSV3d	rs121913024
GWAS Ctlg	rs121913024

Max Magnitude

0

OMIM	126340
Desc
Variant	0010
Related	also

ClinVar
Risk	rs121913024(T;T)
Alt	rs121913024(T;T)
Reference	Rs121913024(C;C)
Significance	Pathogenic
Disease	Cerebro-oculo-facio-skeletal syndrome Xeroderma pigmentosum Cerebrooculofacioskeletal syndrome 2
Variation	info
Gene	ERCC2
CLNDBN	Cerebro-oculo-facio-skeletal syndrome Xeroderma pigmentosum, group D Cerebrooculofacioskeletal syndrome 2
Reversed	1
HGVS	NC_000019.9:g.45856060G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018278.29, RCV000018279.23, RCV000171547.4,