rs34094720

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in complete genomics

Make rs34094720(C;T)

Make rs34094720(T;T)

Reference

GRCh38 38.1/142

Chromosome

5

Position

1293652

Gene

TERT

is a	snp
is	mentioned by
dbSNP	rs34094720
dbSNP (classic)	rs34094720
ClinGen	rs34094720
ebi	rs34094720
HLI	rs34094720
Exac	rs34094720
Gnomad	rs34094720
Varsome	rs34094720
LitVar	rs34094720
Map	rs34094720
PheGenI	rs34094720
Biobank	rs34094720
1000 genomes	rs34094720
hgdp	rs34094720
ensembl	rs34094720
geneview	rs34094720
scholar	rs34094720
google	rs34094720
pharmgkb	rs34094720
gwascentral	rs34094720
openSNP	rs34094720
23andMe	rs34094720
SNPshot	rs34094720
SNPdbe	rs34094720
MSV3d	rs34094720
GWAS Ctlg	rs34094720

GMAF

0.001377

Max Magnitude

0

Pulmonary fibrosis

OMIM	187270
Desc
Variant	0002
Related	also

ClinVar
Risk	rs34094720(T;T)
Alt	rs34094720(T;T)
Reference	Rs34094720(C;C)
Significance	Other
Disease	Pulmonary fibrosis and/or bone marrow failure Aplastic anemia Dyskeratosis congenita not specified Dyskeratosis congenita Idiopathic fibrosing alveolitis Dyskeratosis Congenita not provided
Variation	info
Gene	TERT
CLNDBN	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 Aplastic anemia Dyskeratosis congenita, autosomal recessive, 4 not specified Dyskeratosis congenita, autosomal dominant, 2 Idiopathic fibrosing alveolitis, chronic form Dyskeratosis Congenita, Recessive not provided
Reversed	1
HGVS	NC_000005.9:g.1293767G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013567.22, RCV000032365.2, RCV000190902.2, RCV000218461.1, RCV000234686.2, RCV000262966.1, RCV000318265.1, RCV000425346.1,