rs121918665

Orientation

minus

Stabilized

minus

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

Make rs121918665(C;C)

Make rs121918665(C;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

1264541

Gene

TERT

is a	snp
is	mentioned by
dbSNP	rs121918665
dbSNP (classic)	rs121918665
ClinGen	rs121918665
ebi	rs121918665
HLI	rs121918665
Exac	rs121918665
Gnomad	rs121918665
Varsome	rs121918665
LitVar	rs121918665
Map	rs121918665
PheGenI	rs121918665
Biobank	rs121918665
1000 genomes	rs121918665
hgdp	rs121918665
ensembl	rs121918665
geneview	rs121918665
scholar	rs121918665
google	rs121918665
pharmgkb	rs121918665
gwascentral	rs121918665
openSNP	rs121918665
23andMe	rs121918665
SNPshot	rs121918665
SNPdbe	rs121918665
MSV3d	rs121918665
GWAS Ctlg	rs121918665

Max Magnitude

0

OMIM	187270
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121918665(C;C)
Alt	rs121918665(C;C)
Reference	Rs121918665(G;G)
Significance	Pathogenic
Disease	Dyskeratosis congenita Dyskeratosis congenita autosomal dominant
Variation	info
Gene	TERT
CLNDBN	Dyskeratosis congenita, autosomal dominant, 2 Dyskeratosis congenita autosomal dominant
Reversed	1
HGVS	NC_000005.9:g.1264656C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013572.25, RCV000032389.1,