rs121918662

Orientation

minus

Stabilized

minus

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

Make rs121918662(A;A)

Make rs121918662(A;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

1279341

Gene

TERT

is a	snp
is	mentioned by
dbSNP	rs121918662
dbSNP (classic)	rs121918662
ClinGen	rs121918662
ebi	rs121918662
HLI	rs121918662
Exac	rs121918662
Gnomad	rs121918662
Varsome	rs121918662
LitVar	rs121918662
Map	rs121918662
PheGenI	rs121918662
Biobank	rs121918662
1000 genomes	rs121918662
hgdp	rs121918662
ensembl	rs121918662
geneview	rs121918662
scholar	rs121918662
google	rs121918662
pharmgkb	rs121918662
gwascentral	rs121918662
openSNP	rs121918662
23andMe	rs121918662
SNPshot	rs121918662
SNPdbe	rs121918662
MSV3d	rs121918662
GWAS Ctlg	rs121918662

Max Magnitude

0

OMIM	187270
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121918662(A;A)
Alt	rs121918662(A;A)
Reference	Rs121918662(G;G)
Significance	Pathogenic
Disease	Pulmonary fibrosis and/or bone marrow failure Aplastic anemia
Variation	info
Gene	TERT
CLNDBN	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 Aplastic anemia
Reversed	1
HGVS	NC_000005.9:g.1279456C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013568.24, RCV000032373.1,