rs199422309

Orientation

minus

Stabilized

minus

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

Make rs199422309(A;A)

Make rs199422309(A;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

1294770

Gene

TERT

is a	snp
is	mentioned by
dbSNP	rs199422309
dbSNP (classic)	rs199422309
ClinGen	rs199422309
ebi	rs199422309
HLI	rs199422309
Exac	rs199422309
Gnomad	rs199422309
Varsome	rs199422309
LitVar	rs199422309
Map	rs199422309
PheGenI	rs199422309
Biobank	rs199422309
1000 genomes	rs199422309
hgdp	rs199422309
ensembl	rs199422309
geneview	rs199422309
scholar	rs199422309
google	rs199422309
pharmgkb	rs199422309
gwascentral	rs199422309
openSNP	rs199422309
23andMe	rs199422309
SNPshot	rs199422309
SNPdbe	rs199422309
MSV3d	rs199422309
GWAS Ctlg	rs199422309

Max Magnitude

0

ClinVar
Risk	rs199422309(A;A)
Alt	rs199422309(A;A)
Reference	Rs199422309(G;G)
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.1294885C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000013575.25, RCV000032380.1,