rs4253132

Orientation

minus

Stabilized

minus

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

Make rs4253132(C;T)

Make rs4253132(T;T)

Reference

GRCh38 38.1/142

Chromosome

10

Position

49493110

Gene

ERCC6

is a	snp
is	mentioned by
dbSNP	rs4253132
dbSNP (classic)	rs4253132
ClinGen	rs4253132
ebi	rs4253132
HLI	rs4253132
Exac	rs4253132
Gnomad	rs4253132
Varsome	rs4253132
LitVar	rs4253132
Map	rs4253132
PheGenI	rs4253132
Biobank	rs4253132
1000 genomes	rs4253132
hgdp	rs4253132
ensembl	rs4253132
geneview	rs4253132
scholar	rs4253132
google	rs4253132
pharmgkb	rs4253132
gwascentral	rs4253132
openSNP	rs4253132
23andMe	rs4253132
SNPshot	rs4253132
SNPdbe	rs4253132
MSV3d	rs4253132
GWAS Ctlg	rs4253132

GMAF

0.1345

Max Magnitude

0

?	(C;C) (C;T) (T;T)	28

[PMID 23720401] Single Nucleotide Polymorphisms in Nucleotide Excision Repair Genes, Cigarette Smoking, and the Risk of Head and Neck Cancer

ClinVar
Risk	rs4253132(A;A) rs4253132(T;T)
Alt	rs4253132(A;A) rs4253132(T;T)
Reference	Rs4253132(C;C)
Significance	Non-pathogenic
Disease	not specified Cerebrooculofacioskeletal Syndrome Cockayne syndrome Macular degeneration
Variation	info
Gene	ERCC6
CLNDBN	not specified Cerebrooculofacioskeletal Syndrome Cockayne syndrome Macular degeneration
Reversed	1
HGVS	NC_000010.10:g.50701156G>A
CLNSRC
CLNACC	RCV000170371.2, RCV000302397.1, RCV000357202.1, RCV000404616.1,