rs121913023

Orientation

minus

Stabilized

minus

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

Make rs121913023(A;A)

Make rs121913023(A;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

45352511

Gene

ERCC2

is a	snp
is	mentioned by
dbSNP	rs121913023
dbSNP (classic)	rs121913023
ClinGen	rs121913023
ebi	rs121913023
HLI	rs121913023
Exac	rs121913023
Gnomad	rs121913023
Varsome	rs121913023
LitVar	rs121913023
Map	rs121913023
PheGenI	rs121913023
Biobank	rs121913023
1000 genomes	rs121913023
hgdp	rs121913023
ensembl	rs121913023
geneview	rs121913023
scholar	rs121913023
google	rs121913023
pharmgkb	rs121913023
gwascentral	rs121913023
openSNP	rs121913023
23andMe	rs121913023
SNPshot	rs121913023
SNPdbe	rs121913023
MSV3d	rs121913023
GWAS Ctlg	rs121913023

Max Magnitude

0

OMIM	126340
Desc
Variant	0009
Related	also

ClinVar
Risk	rs121913023(A;A)
Alt	rs121913023(A;A)
Reference	Rs121913023(G;G)
Significance	Pathogenic
Disease	Cerebrooculofacioskeletal syndrome 2
Variation	info
Gene	ERCC2
CLNDBN	Cerebrooculofacioskeletal syndrome 2
Reversed	1
HGVS	NC_000019.9:g.45855769C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018277.27,