rs4253196

Orientation

minus

Stabilized

minus

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

Make rs4253196(A;G)

Make rs4253196(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

10

Position

49473613

Gene

ERCC6

is a	snp
is	mentioned by
dbSNP	rs4253196
dbSNP (classic)	rs4253196
ClinGen	rs4253196
ebi	rs4253196
HLI	rs4253196
Exac	rs4253196
Gnomad	rs4253196
Varsome	rs4253196
LitVar	rs4253196
Map	rs4253196
PheGenI	rs4253196
Biobank	rs4253196
1000 genomes	rs4253196
hgdp	rs4253196
ensembl	rs4253196
geneview	rs4253196
scholar	rs4253196
google	rs4253196
pharmgkb	rs4253196
gwascentral	rs4253196
openSNP	rs4253196
23andMe	rs4253196
SNPshot	rs4253196
SNPdbe	rs4253196
MSV3d	rs4253196
GWAS Ctlg	rs4253196

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

ClinVar
Risk	rs4253196(C;C) rs4253196(G;G)
Alt	rs4253196(C;C) rs4253196(G;G)
Reference	Rs4253196(A;A)
Significance	Pathogenic
Disease	Cockayne syndrome B
Variation	info
Gene	ERCC6
CLNDBN	Cockayne syndrome B
Reversed	1
HGVS	NC_000010.10:g.50681659T>C
CLNSRC
CLNACC	RCV000170380.1,