rs121913046

Orientation

minus

Stabilized

minus

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

Make rs121913046(A;C)

Make rs121913046(C;C)

Reference

GRCh38 38.1/141

Chromosome

2

Position

127292726

Gene

ERCC3

is a	snp
is	mentioned by
dbSNP	rs121913046
dbSNP (classic)	rs121913046
ClinGen	rs121913046
ebi	rs121913046
HLI	rs121913046
Exac	rs121913046
Gnomad	rs121913046
Varsome	rs121913046
LitVar	rs121913046
Map	rs121913046
PheGenI	rs121913046
Biobank	rs121913046
1000 genomes	rs121913046
hgdp	rs121913046
ensembl	rs121913046
geneview	rs121913046
scholar	rs121913046
google	rs121913046
pharmgkb	rs121913046
gwascentral	rs121913046
openSNP	rs121913046
23andMe	rs121913046
SNPshot	rs121913046
SNPdbe	rs121913046
MSV3d	rs121913046
GWAS Ctlg	rs121913046

Max Magnitude

0

OMIM	133510
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121913046(C;C)
Alt	rs121913046(C;C)
Reference	Rs121913046(A;A)
Significance	Pathogenic
Disease	Trichothiodystrophy 2
Variation	info
Gene	ERCC3
CLNDBN	Trichothiodystrophy 2, photosensitive
Reversed	1
HGVS	NC_000002.11:g.128050302T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018052.28,