rs199422301

Orientation

minus

Stabilized

minus

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

Make rs199422301(C;T)

Make rs199422301(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

1271156

Gene

TERT

is a	snp
is	mentioned by
dbSNP	rs199422301
dbSNP (classic)	rs199422301
ClinGen	rs199422301
ebi	rs199422301
HLI	rs199422301
Exac	rs199422301
Gnomad	rs199422301
Varsome	rs199422301
LitVar	rs199422301
Map	rs199422301
PheGenI	rs199422301
Biobank	rs199422301
1000 genomes	rs199422301
hgdp	rs199422301
ensembl	rs199422301
geneview	rs199422301
scholar	rs199422301
google	rs199422301
pharmgkb	rs199422301
gwascentral	rs199422301
openSNP	rs199422301
23andMe	rs199422301
SNPshot	rs199422301
SNPdbe	rs199422301
MSV3d	rs199422301
GWAS Ctlg	rs199422301

Max Magnitude

0

ClinVar
Risk	rs199422301(T;T)
Alt	rs199422301(T;T)
Reference	Rs199422301(C;C)
Significance	Pathogenic
Disease	Dyskeratosis congenita Dyskeratosis congenita autosomal recessive 1
Variation	info
Gene	TERT
CLNDBN	Dyskeratosis congenita, autosomal recessive, 4 Dyskeratosis congenita autosomal recessive 1
Reversed	1
HGVS	NC_000005.9:g.1271271G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000022784.25, RCV000032383.1,