rs121917900

Orientation

minus

Stabilized

minus

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

Make rs121917900(A;A)

Make rs121917900(A;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

49500673

Gene

ERCC6

is a	snp
is	mentioned by
dbSNP	rs121917900
dbSNP (classic)	rs121917900
ClinGen	rs121917900
ebi	rs121917900
HLI	rs121917900
Exac	rs121917900
Gnomad	rs121917900
Varsome	rs121917900
LitVar	rs121917900
Map	rs121917900
PheGenI	rs121917900
Biobank	rs121917900
1000 genomes	rs121917900
hgdp	rs121917900
ensembl	rs121917900
geneview	rs121917900
scholar	rs121917900
google	rs121917900
pharmgkb	rs121917900
gwascentral	rs121917900
openSNP	rs121917900
23andMe	rs121917900
SNPshot	rs121917900
SNPdbe	rs121917900
MSV3d	rs121917900
GWAS Ctlg	rs121917900

Max Magnitude

0

OMIM	609413
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121917900(A;A)
Alt	rs121917900(A;A)
Reference	Rs121917900(G;G)
Significance	Pathogenic
Disease	Cockayne syndrome B
Variation	info
Gene	ERCC6
CLNDBN	Cockayne syndrome B
Reversed	1
HGVS	NC_000010.10:g.50708719C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001768.4,