rs121918664

Orientation

minus

Stabilized

minus

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

Make rs121918664(A;A)

Make rs121918664(A;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

1254395

Gene

TERT

is a	snp
is	mentioned by
dbSNP	rs121918664
dbSNP (classic)	rs121918664
ClinGen	rs121918664
ebi	rs121918664
HLI	rs121918664
Exac	rs121918664
Gnomad	rs121918664
Varsome	rs121918664
LitVar	rs121918664
Map	rs121918664
PheGenI	rs121918664
Biobank	rs121918664
1000 genomes	rs121918664
hgdp	rs121918664
ensembl	rs121918664
geneview	rs121918664
scholar	rs121918664
google	rs121918664
pharmgkb	rs121918664
gwascentral	rs121918664
openSNP	rs121918664
23andMe	rs121918664
SNPshot	rs121918664
SNPdbe	rs121918664
MSV3d	rs121918664
GWAS Ctlg	rs121918664

Max Magnitude

0

OMIM	187270
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121918664(A;A)
Alt	rs121918664(A;A)
Reference	Rs121918664(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.1254510C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013570.23, RCV000032394.1,