rs121913019

Orientation

minus

Stabilized

minus

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

Make rs121913019(A;C)

Make rs121913019(C;C)

Reference

GRCh38 38.1/141

Chromosome

19

Position

45354774

Gene

ERCC2

is a	snp
is	mentioned by
dbSNP	rs121913019
dbSNP (classic)	rs121913019
ClinGen	rs121913019
ebi	rs121913019
HLI	rs121913019
Exac	rs121913019
Gnomad	rs121913019
Varsome	rs121913019
LitVar	rs121913019
Map	rs121913019
PheGenI	rs121913019
Biobank	rs121913019
1000 genomes	rs121913019
hgdp	rs121913019
ensembl	rs121913019
geneview	rs121913019
scholar	rs121913019
google	rs121913019
pharmgkb	rs121913019
gwascentral	rs121913019
openSNP	rs121913019
23andMe	rs121913019
SNPshot	rs121913019
SNPdbe	rs121913019
MSV3d	rs121913019
GWAS Ctlg	rs121913019

GMAF

0.0004591

Max Magnitude

0

OMIM	126340
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121913019(C;C)
Alt	rs121913019(C;C)
Reference	Rs121913019(A;A)
Significance	Pathogenic
Disease	Xeroderma pigmentosum
Variation	info
Gene	ERCC2
CLNDBN	Xeroderma pigmentosum, group D
Reversed	1
HGVS	NC_000019.9:g.45858032T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018272.29,