rs121913026

Orientation

minus

Stabilized

minus

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

Make rs121913026(C;T)

Make rs121913026(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

45352235

Gene

ERCC2

is a	snp
is	mentioned by
dbSNP	rs121913026
dbSNP (classic)	rs121913026
ClinGen	rs121913026
ebi	rs121913026
HLI	rs121913026
Exac	rs121913026
Gnomad	rs121913026
Varsome	rs121913026
LitVar	rs121913026
Map	rs121913026
PheGenI	rs121913026
Biobank	rs121913026
1000 genomes	rs121913026
hgdp	rs121913026
ensembl	rs121913026
geneview	rs121913026
scholar	rs121913026
google	rs121913026
pharmgkb	rs121913026
gwascentral	rs121913026
openSNP	rs121913026
23andMe	rs121913026
SNPshot	rs121913026
SNPdbe	rs121913026
MSV3d	rs121913026
GWAS Ctlg	rs121913026

Max Magnitude

0

OMIM	126340
Desc
Variant	0014
Related	also

ClinVar
Risk	rs121913026(T;T)
Alt	rs121913026(T;T)
Reference	Rs121913026(C;C)
Significance	Pathogenic
Disease	Trichothiodystrophy 1 not provided
Variation	info
Gene	ERCC2
CLNDBN	Trichothiodystrophy 1, photosensitive not provided
Reversed	1
HGVS	NC_000019.9:g.45855493G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018283.29, RCV000255624.1,