rs121913047

Orientation

minus

Stabilized

minus

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

Make rs121913047(C;T)

Make rs121913047(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

127286772

Gene

ERCC3

is a	snp
is	mentioned by
dbSNP	rs121913047
dbSNP (classic)	rs121913047
ClinGen	rs121913047
ebi	rs121913047
HLI	rs121913047
Exac	rs121913047
Gnomad	rs121913047
Varsome	rs121913047
LitVar	rs121913047
Map	rs121913047
PheGenI	rs121913047
Biobank	rs121913047
1000 genomes	rs121913047
hgdp	rs121913047
ensembl	rs121913047
geneview	rs121913047
scholar	rs121913047
google	rs121913047
pharmgkb	rs121913047
gwascentral	rs121913047
openSNP	rs121913047
23andMe	rs121913047
SNPshot	rs121913047
SNPdbe	rs121913047
MSV3d	rs121913047
GWAS Ctlg	rs121913047

Max Magnitude

0

OMIM	133510
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121913047(A;A) rs121913047(T;T)
Alt	rs121913047(A;A) rs121913047(T;T)
Reference	Rs121913047(C;C)
Significance	Pathogenic
Disease	Xeroderma pigmentosum
Variation	info
Gene	ERCC3
CLNDBN	Xeroderma pigmentosum, complementation group b
Reversed	1
HGVS	NC_000002.11:g.128044348G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018053.28,