rs121913020

Orientation

minus

Stabilized

minus

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

Make rs121913020(A;A)

Make rs121913020(A;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

45368655

Gene

ERCC2

is a	snp
is	mentioned by
dbSNP	rs121913020
dbSNP (classic)	rs121913020
ClinGen	rs121913020
ebi	rs121913020
HLI	rs121913020
Exac	rs121913020
Gnomad	rs121913020
Varsome	rs121913020
LitVar	rs121913020
Map	rs121913020
PheGenI	rs121913020
Biobank	rs121913020
1000 genomes	rs121913020
hgdp	rs121913020
ensembl	rs121913020
geneview	rs121913020
scholar	rs121913020
google	rs121913020
pharmgkb	rs121913020
gwascentral	rs121913020
openSNP	rs121913020
23andMe	rs121913020
SNPshot	rs121913020
SNPdbe	rs121913020
MSV3d	rs121913020
GWAS Ctlg	rs121913020

Max Magnitude

0

OMIM	126340
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121913020(A;A)
Alt	rs121913020(A;A)
Reference	Rs121913020(G;G)
Significance	Pathogenic
Disease	Trichothiodystrophy 1 Xeroderma pigmentosum not provided
Variation	info
Gene	ERCC2
CLNDBN	Trichothiodystrophy 1, photosensitive Xeroderma pigmentosum, group D not provided
Reversed	1
HGVS	NC_000019.9:g.45871913C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018273.26, RCV000018274.30, RCV000424822.1,