rs121913050

Orientation

plus

Stabilized

plus

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

Make rs121913050(C;C)

Make rs121913050(C;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

13926630

Gene

ERCC4

is a	snp
is	mentioned by
dbSNP	rs121913050
dbSNP (classic)	rs121913050
ClinGen	rs121913050
ebi	rs121913050
HLI	rs121913050
Exac	rs121913050
Gnomad	rs121913050
Varsome	rs121913050
LitVar	rs121913050
Map	rs121913050
PheGenI	rs121913050
Biobank	rs121913050
1000 genomes	rs121913050
hgdp	rs121913050
ensembl	rs121913050
geneview	rs121913050
scholar	rs121913050
google	rs121913050
pharmgkb	rs121913050
gwascentral	rs121913050
openSNP	rs121913050
23andMe	rs121913050
SNPshot	rs121913050
SNPdbe	rs121913050
MSV3d	rs121913050
GWAS Ctlg	rs121913050

Max Magnitude

0

OMIM	133520
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121913050(A;A) rs121913050(C;C)
Alt	rs121913050(A;A) rs121913050(C;C)
Reference	Rs121913050(G;G)
Significance	Pathogenic
Disease	XFE progeroid syndrome
Variation	info
Gene	ERCC4
CLNDBN	XFE progeroid syndrome
Reversed	0
HGVS	NC_000016.9:g.14020487G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018049.28,