rs141425941

Orientation

plus

Stabilized

plus

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

Make rs141425941(C;T)

Make rs141425941(T;T)

Reference

GRCh38 38.1/142

Chromosome

5

Position

1272196

Gene

TERT

is a	snp
is	mentioned by
dbSNP	rs141425941
dbSNP (classic)	rs141425941
ClinGen	rs141425941
ebi	rs141425941
HLI	rs141425941
Exac	rs141425941
Gnomad	rs141425941
Varsome	rs141425941
LitVar	rs141425941
Map	rs141425941
PheGenI	rs141425941
Biobank	rs141425941
1000 genomes	rs141425941
hgdp	rs141425941
ensembl	rs141425941
geneview	rs141425941
scholar	rs141425941
google	rs141425941
pharmgkb	rs141425941
gwascentral	rs141425941
openSNP	rs141425941
23andMe	rs141425941
SNPshot	rs141425941
SNPdbe	rs141425941
MSV3d	rs141425941
GWAS Ctlg	rs141425941

Max Magnitude

0

ClinVar
Risk	rs141425941(T;T)
Alt	rs141425941(T;T)
Reference	Rs141425941(C;C)
Significance	Pathogenic
Disease	Pulmonary fibrosis and/or bone marrow failure Dyskeratosis congenita Idiopathic fibrosing alveolitis
Variation	info
Gene	TERT
CLNDBN	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 Dyskeratosis congenita, autosomal dominant, 2 Idiopathic fibrosing alveolitis, chronic form
Reversed	0
HGVS	NC_000005.9:g.1272311C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000030627.24, RCV000227032.2,