rs121913025

Orientation

minus

Stabilized

minus

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

Make rs121913025(C;C)

Make rs121913025(C;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

45357295

Gene

ERCC2

is a	snp
is	mentioned by
dbSNP	rs121913025
dbSNP (classic)	rs121913025
ClinGen	rs121913025
ebi	rs121913025
HLI	rs121913025
Exac	rs121913025
Gnomad	rs121913025
Varsome	rs121913025
LitVar	rs121913025
Map	rs121913025
PheGenI	rs121913025
Biobank	rs121913025
1000 genomes	rs121913025
hgdp	rs121913025
ensembl	rs121913025
geneview	rs121913025
scholar	rs121913025
google	rs121913025
pharmgkb	rs121913025
gwascentral	rs121913025
openSNP	rs121913025
23andMe	rs121913025
SNPshot	rs121913025
SNPdbe	rs121913025
MSV3d	rs121913025
GWAS Ctlg	rs121913025

Max Magnitude

0

OMIM	126340
Desc
Variant	0013
Related	also

ClinVar
Risk	rs121913025(C;C)
Alt	rs121913025(C;C)
Reference	Rs121913025(T;T)
Significance	Pathogenic
Disease	Xeroderma pigmentosum
Variation	info
Gene	ERCC2
CLNDBN	Xeroderma pigmentosum, group D
Reversed	1
HGVS	NC_000019.9:g.45860553A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018282.28,