rs121918663

Orientation

minus

Stabilized

minus

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

Make rs121918663(A;G)

Make rs121918663(G;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

1272252

Gene

TERT

is a	snp
is	mentioned by
dbSNP	rs121918663
dbSNP (classic)	rs121918663
ClinGen	rs121918663
ebi	rs121918663
HLI	rs121918663
Exac	rs121918663
Gnomad	rs121918663
Varsome	rs121918663
LitVar	rs121918663
Map	rs121918663
PheGenI	rs121918663
Biobank	rs121918663
1000 genomes	rs121918663
hgdp	rs121918663
ensembl	rs121918663
geneview	rs121918663
scholar	rs121918663
google	rs121918663
pharmgkb	rs121918663
gwascentral	rs121918663
openSNP	rs121918663
23andMe	rs121918663
SNPshot	rs121918663
SNPdbe	rs121918663
MSV3d	rs121918663
GWAS Ctlg	rs121918663

Max Magnitude

0

OMIM	187270
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121918663(G;G)
Alt	rs121918663(G;G)
Reference	Rs121918663(A;A)
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.1272367T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013569.24, RCV000032382.1,