rs61748181

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	0	Benign variant according to ClinVar
(T;T)	0	Benign variant according to ClinVar

Reference

GRCh38 38.1/141

Chromosome

5

Position

1294051

Gene

TERT

is a	snp
is	mentioned by
dbSNP	rs61748181
dbSNP (classic)	rs61748181
ClinGen	rs61748181
ebi	rs61748181
HLI	rs61748181
Exac	rs61748181
Gnomad	rs61748181
Varsome	rs61748181
LitVar	rs61748181
Map	rs61748181
PheGenI	rs61748181
Biobank	rs61748181
1000 genomes	rs61748181
hgdp	rs61748181
ensembl	rs61748181
geneview	rs61748181
scholar	rs61748181
google	rs61748181
pharmgkb	rs61748181
gwascentral	rs61748181
openSNP	rs61748181
23andMe	rs61748181
SNPshot	rs61748181
SNPdbe	rs61748181
MSV3d	rs61748181
GWAS Ctlg	rs61748181

GMAF

0.01423

Max Magnitude

0

ClinVar
Risk	Rs61748181(T;T)
Alt	Rs61748181(T;T)
Reference	Rs61748181(C;C)
Significance	Other
Disease	Aplastic anemia not specified Idiopathic fibrosing alveolitis Dyskeratosis Congenita Dyskeratosis congenita
Variation	info
Gene	TERT
CLNDBN	Aplastic anemia not specified Idiopathic fibrosing alveolitis, chronic form Dyskeratosis Congenita, Recessive Dyskeratosis congenita, autosomal dominant, 2
Reversed	0
HGVS	NC_000005.9:g.1294166C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000032399.2, RCV000176003.3, RCV000295005.1, RCV000391188.1, RCV000465523.1,

[PMID 26590902 ] Fine-mapping of chromosome 5p15.33 based on a targeted deep sequencing and high density genotyping identifies novel lung cancer susceptibility loci