rs121913049

Orientation

plus

Stabilized

plus

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

Make rs121913049(C;T)

Make rs121913049(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

13947991

Gene

ERCC4

is a	snp
is	mentioned by
dbSNP	rs121913049
dbSNP (classic)	rs121913049
ClinGen	rs121913049
ebi	rs121913049
HLI	rs121913049
Exac	rs121913049
Gnomad	rs121913049
Varsome	rs121913049
LitVar	rs121913049
Map	rs121913049
PheGenI	rs121913049
Biobank	rs121913049
1000 genomes	rs121913049
hgdp	rs121913049
ensembl	rs121913049
geneview	rs121913049
scholar	rs121913049
google	rs121913049
pharmgkb	rs121913049
gwascentral	rs121913049
openSNP	rs121913049
23andMe	rs121913049
SNPshot	rs121913049
SNPdbe	rs121913049
MSV3d	rs121913049
GWAS Ctlg	rs121913049

Max Magnitude

0

OMIM	133520
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121913049(T;T)
Alt	rs121913049(T;T)
Reference	Rs121913049(C;C)
Significance	Pathogenic
Disease	Xeroderma pigmentosum not specified not provided Cockayne syndrome Fanconi anemia
Variation	info
Gene	ERCC4
CLNDBN	Xeroderma pigmentosum, group F not specified not provided Cockayne syndrome Fanconi anemia, complementation group Q
Reversed	0
HGVS	NC_000016.9:g.14041848C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018048.24, RCV000120808.1, RCV000415873.1, RCV000467658.1,