rs199422300

Orientation

minus

Stabilized

minus

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

Make rs199422300(-;-)

Make rs199422300(-;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

1278687

Gene

TERT

is a	snp
is	mentioned by
dbSNP	rs199422300
dbSNP (classic)	rs199422300
ClinGen	rs199422300
ebi	rs199422300
HLI	rs199422300
Exac	rs199422300
Gnomad	rs199422300
Varsome	rs199422300
LitVar	rs199422300
Map	rs199422300
PheGenI	rs199422300
Biobank	rs199422300
1000 genomes	rs199422300
hgdp	rs199422300
ensembl	rs199422300
geneview	rs199422300
scholar	rs199422300
google	rs199422300
pharmgkb	rs199422300
gwascentral	rs199422300
openSNP	rs199422300
23andMe	rs199422300
SNPshot	rs199422300
SNPdbe	rs199422300
MSV3d	rs199422300
GWAS Ctlg	rs199422300

Max Magnitude

0

ClinVar
Risk	rs199422300(-;-)
Alt	rs199422300(-;-)
Reference	Rs199422300(T;T)
Significance	Pathogenic
Disease	Pulmonary fibrosis and/or bone marrow failure Idiopathic fibrosing alveolitis
Variation	info
Gene	TERT
CLNDBN	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 Idiopathic fibrosing alveolitis, chronic form
Reversed	1
HGVS	NC_000005.9:g.1278802delA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000013574.25, RCV000032381.1,