rs4253208

Orientation

minus

Stabilized

minus

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

Make rs4253208(G;G)

Reference

GRCh38 38.1/142

Chromosome

10

Position

49470676

Gene

ERCC6

is a	snp
is	mentioned by
dbSNP	rs4253208
dbSNP (classic)	rs4253208
ClinGen	rs4253208
ebi	rs4253208
HLI	rs4253208
Exac	rs4253208
Gnomad	rs4253208
Varsome	rs4253208
LitVar	rs4253208
Map	rs4253208
PheGenI	rs4253208
Biobank	rs4253208
1000 genomes	rs4253208
hgdp	rs4253208
ensembl	rs4253208
geneview	rs4253208
scholar	rs4253208
google	rs4253208
pharmgkb	rs4253208
gwascentral	rs4253208
openSNP	rs4253208
23andMe	rs4253208
SNPshot	rs4253208
SNPdbe	rs4253208
MSV3d	rs4253208
GWAS Ctlg	rs4253208

GMAF

0.008724

Max Magnitude

0

?	(C;C) (C;G) (G;G)	28

OMIM	609413
Desc	COCKAYNE SYNDROME, TYPE B
Variant	0008
Related	also

ClinVar
Risk	rs4253208(G;G) rs4253208(T;T)
Alt	rs4253208(G;G) rs4253208(T;T)
Reference	Rs4253208(C;C)
Significance	Probable-non-pathogenic
Disease	Cockayne syndrome B not specified not provided Macular degeneration Cerebrooculofacioskeletal Syndrome Cockayne syndrome
Variation	info
Gene	ERCC6
CLNDBN	Cockayne syndrome B not specified not provided Macular degeneration Cerebrooculofacioskeletal Syndrome Cockayne syndrome
Reversed	1
HGVS	NC_000010.10:g.50678722G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001776.5, RCV000170384.1, RCV000224059.1, RCV000291488.1, RCV000345279.1, RCV000383439.1,