rs121913016

Orientation

minus

Stabilized

minus

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

Make rs121913016(C;G)

Make rs121913016(G;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

45357368

Gene

ERCC2

is a	snp
is	mentioned by
dbSNP	rs121913016
dbSNP (classic)	rs121913016
ClinGen	rs121913016
ebi	rs121913016
HLI	rs121913016
Exac	rs121913016
Gnomad	rs121913016
Varsome	rs121913016
LitVar	rs121913016
Map	rs121913016
PheGenI	rs121913016
Biobank	rs121913016
1000 genomes	rs121913016
hgdp	rs121913016
ensembl	rs121913016
geneview	rs121913016
scholar	rs121913016
google	rs121913016
pharmgkb	rs121913016
gwascentral	rs121913016
openSNP	rs121913016
23andMe	rs121913016
SNPshot	rs121913016
SNPdbe	rs121913016
MSV3d	rs121913016
GWAS Ctlg	rs121913016

Max Magnitude

0

OMIM	126340
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121913016(G;G)
Alt	rs121913016(G;G)
Reference	Rs121913016(C;C)
Significance	Pathogenic
Disease	Xeroderma pigmentosum not specified Trichothiodystrophy 1
Variation	info
Gene	ERCC2
CLNDBN	Xeroderma pigmentosum, group D not specified Trichothiodystrophy 1, photosensitive
Reversed	1
HGVS	NC_000019.9:g.45860626G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018267.26, RCV000120764.1, RCV000171546.4,