rs121918661

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common on affy axiom data

Make rs121918661(A;A)

Make rs121918661(A;G)

Reference

GRCh38 38.1/142

Chromosome

5

Position

1294282

Gene

TERT

is a	snp
is	mentioned by
dbSNP	rs121918661
dbSNP (classic)	rs121918661
ClinGen	rs121918661
ebi	rs121918661
HLI	rs121918661
Exac	rs121918661
Gnomad	rs121918661
Varsome	rs121918661
LitVar	rs121918661
Map	rs121918661
PheGenI	rs121918661
Biobank	rs121918661
1000 genomes	rs121918661
hgdp	rs121918661
ensembl	rs121918661
geneview	rs121918661
scholar	rs121918661
google	rs121918661
pharmgkb	rs121918661
gwascentral	rs121918661
openSNP	rs121918661
23andMe	rs121918661
SNPshot	rs121918661
SNPdbe	rs121918661
MSV3d	rs121918661
GWAS Ctlg	rs121918661

Max Magnitude

0

OMIM	187270
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121918661(A;A)
Alt	rs121918661(A;A)
Reference	Rs121918661(G;G)
Significance	Pathogenic
Disease	Pulmonary fibrosis and/or bone marrow failure Aplastic anemia Dyskeratosis congenita Idiopathic fibrosing alveolitis not provided
Variation	info
Gene	TERT
CLNDBN	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 Aplastic anemia Dyskeratosis congenita, autosomal dominant, 2 Idiopathic fibrosing alveolitis, chronic form not provided
Reversed	1
HGVS	NC_000005.9:g.1294397C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013566.23, RCV000032398.1, RCV000459343.1, RCV000489117.1,