rs121913048

Orientation

minus

Stabilized

minus

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

Make rs121913048(C;T)

Make rs121913048(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

127279270

Gene

ERCC3

is a	snp
is	mentioned by
dbSNP	rs121913048
dbSNP (classic)	rs121913048
ClinGen	rs121913048
ebi	rs121913048
HLI	rs121913048
Exac	rs121913048
Gnomad	rs121913048
Varsome	rs121913048
LitVar	rs121913048
Map	rs121913048
PheGenI	rs121913048
Biobank	rs121913048
1000 genomes	rs121913048
hgdp	rs121913048
ensembl	rs121913048
geneview	rs121913048
scholar	rs121913048
google	rs121913048
pharmgkb	rs121913048
gwascentral	rs121913048
openSNP	rs121913048
23andMe	rs121913048
SNPshot	rs121913048
SNPdbe	rs121913048
MSV3d	rs121913048
GWAS Ctlg	rs121913048

Max Magnitude

0

OMIM	133510
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121913048(T;T)
Alt	rs121913048(T;T)
Reference	Rs121913048(C;C)
Significance	Pathogenic
Disease	Xeroderma pigmentosum
Variation	info
Gene	ERCC3
CLNDBN	Xeroderma pigmentosum, complementation group b
Reversed	1
HGVS	NC_000002.11:g.128036846G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018056.28,