rs199422286

Orientation

minus

Stabilized

minus

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

Make rs199422286(C;G)

Make rs199422286(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

169764651

Gene

TERC

is a	snp
is	mentioned by
dbSNP	rs199422286
dbSNP (classic)	rs199422286
ClinGen	rs199422286
ebi	rs199422286
HLI	rs199422286
Exac	rs199422286
Gnomad	rs199422286
Varsome	rs199422286
LitVar	rs199422286
Map	rs199422286
PheGenI	rs199422286
Biobank	rs199422286
1000 genomes	rs199422286
hgdp	rs199422286
ensembl	rs199422286
geneview	rs199422286
scholar	rs199422286
google	rs199422286
pharmgkb	rs199422286
gwascentral	rs199422286
openSNP	rs199422286
23andMe	rs199422286
SNPshot	rs199422286
SNPdbe	rs199422286
MSV3d	rs199422286
GWAS Ctlg	rs199422286

Max Magnitude

0

ClinVar
Risk	rs199422286(G;G)
Alt	rs199422286(G;G)
Reference	Rs199422286(C;C)
Significance	Pathogenic
Disease	Dyskeratosis congenita autosomal dominant
Variation	info
Gene	TERC
CLNDBN	Dyskeratosis congenita autosomal dominant
Reversed	1
HGVS	NC_000003.11:g.169482439G>C
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032575.1,