rs121917902

Orientation

minus

Stabilized

minus

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

Make rs121917902(C;T)

Make rs121917902(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

49524073

Gene	ERCC6, PGBD3

is a	snp
is	mentioned by
dbSNP	rs121917902
dbSNP (classic)	rs121917902
ClinGen	rs121917902
ebi	rs121917902
HLI	rs121917902
Exac	rs121917902
Gnomad	rs121917902
Varsome	rs121917902
LitVar	rs121917902
Map	rs121917902
PheGenI	rs121917902
Biobank	rs121917902
1000 genomes	rs121917902
hgdp	rs121917902
ensembl	rs121917902
geneview	rs121917902
scholar	rs121917902
google	rs121917902
pharmgkb	rs121917902
gwascentral	rs121917902
openSNP	rs121917902
23andMe	rs121917902
SNPshot	rs121917902
SNPdbe	rs121917902
MSV3d	rs121917902
GWAS Ctlg	rs121917902

Max Magnitude

0

OMIM	609413
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121917902(T;T)
Alt	rs121917902(T;T)
Reference	Rs121917902(C;C)
Significance	Pathogenic
Disease	Cockayne syndrome B
Variation	info
Gene	ERCC6 PGBD3
CLNDBN	Cockayne syndrome B
Reversed	1
HGVS	NC_000010.10:g.50732119G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001772.4,