rs199422257

Orientation

minus

Stabilized

minus

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

Make rs199422257(C;C)

Make rs199422257(C;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

169765059

Gene

TERC

is a	snp
is	mentioned by
dbSNP	rs199422257
dbSNP (classic)	rs199422257
ClinGen	rs199422257
ebi	rs199422257
HLI	rs199422257
Exac	rs199422257
Gnomad	rs199422257
Varsome	rs199422257
LitVar	rs199422257
Map	rs199422257
PheGenI	rs199422257
Biobank	rs199422257
1000 genomes	rs199422257
hgdp	rs199422257
ensembl	rs199422257
geneview	rs199422257
scholar	rs199422257
google	rs199422257
pharmgkb	rs199422257
gwascentral	rs199422257
openSNP	rs199422257
23andMe	rs199422257
SNPshot	rs199422257
SNPdbe	rs199422257
MSV3d	rs199422257
GWAS Ctlg	rs199422257

Max Magnitude

0

ClinVar
Risk	rs199422257(C;C)
Alt	rs199422257(C;C)
Reference	Rs199422257(G;G)
Significance	Pathogenic
Disease	Dyskeratosis congenita autosomal dominant
Variation	info
Gene	TERC
CLNDBN	Dyskeratosis congenita autosomal dominant
Reversed	1
HGVS	NC_000003.11:g.169482847C>G
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032568.1,