rs199422306

Orientation

minus

Stabilized

minus

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

Make rs199422306(C;T)

Make rs199422306(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

1253798

Gene

TERT

is a	snp
is	mentioned by
dbSNP	rs199422306
dbSNP (classic)	rs199422306
ClinGen	rs199422306
ebi	rs199422306
HLI	rs199422306
Exac	rs199422306
Gnomad	rs199422306
Varsome	rs199422306
LitVar	rs199422306
Map	rs199422306
PheGenI	rs199422306
Biobank	rs199422306
1000 genomes	rs199422306
hgdp	rs199422306
ensembl	rs199422306
geneview	rs199422306
scholar	rs199422306
google	rs199422306
pharmgkb	rs199422306
gwascentral	rs199422306
openSNP	rs199422306
23andMe	rs199422306
SNPshot	rs199422306
SNPdbe	rs199422306
MSV3d	rs199422306
GWAS Ctlg	rs199422306

Max Magnitude

0

ClinVar
Risk	rs199422306(T;T)
Alt	rs199422306(T;T)
Reference	Rs199422306(C;C)
Significance	Pathogenic
Disease	Idiopathic fibrosing alveolitis Dyskeratosis congenita
Variation	info
Gene	TERT
CLNDBN	Idiopathic fibrosing alveolitis, chronic form Dyskeratosis congenita, autosomal dominant, 2
Reversed	1
HGVS	NC_000005.9:g.1253913G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000032395.1, RCV000475722.1,