rs121913017

Orientation

minus

Stabilized

minus

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

Make rs121913017(C;T)

Make rs121913017(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

45352223

Gene

ERCC2

is a	snp
is	mentioned by
dbSNP	rs121913017
dbSNP (classic)	rs121913017
ClinGen	rs121913017
ebi	rs121913017
HLI	rs121913017
Exac	rs121913017
Gnomad	rs121913017
Varsome	rs121913017
LitVar	rs121913017
Map	rs121913017
PheGenI	rs121913017
Biobank	rs121913017
1000 genomes	rs121913017
hgdp	rs121913017
ensembl	rs121913017
geneview	rs121913017
scholar	rs121913017
google	rs121913017
pharmgkb	rs121913017
gwascentral	rs121913017
openSNP	rs121913017
23andMe	rs121913017
SNPshot	rs121913017
SNPdbe	rs121913017
MSV3d	rs121913017
GWAS Ctlg	rs121913017

Max Magnitude

0

OMIM	126340
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121913017(T;T)
Alt	rs121913017(T;T)
Reference	Rs121913017(C;C)
Significance	Pathogenic
Disease	Xeroderma pigmentosum
Variation	info
Gene	ERCC2
CLNDBN	Xeroderma pigmentosum, group D
Reversed	1
HGVS	NC_000019.9:g.45855481G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018269.28,