rs387907250

Orientation

minus

Stabilized

minus

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

Make rs387907250(A;G)

Make rs387907250(G;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

1264542

Gene

TERT

is a	snp
is	mentioned by
dbSNP	rs387907250
dbSNP (classic)	rs387907250
ClinGen	rs387907250
ebi	rs387907250
HLI	rs387907250
Exac	rs387907250
Gnomad	rs387907250
Varsome	rs387907250
LitVar	rs387907250
Map	rs387907250
PheGenI	rs387907250
Biobank	rs387907250
1000 genomes	rs387907250
hgdp	rs387907250
ensembl	rs387907250
geneview	rs387907250
scholar	rs387907250
google	rs387907250
pharmgkb	rs387907250
gwascentral	rs387907250
openSNP	rs387907250
23andMe	rs387907250
SNPshot	rs387907250
SNPdbe	rs387907250
MSV3d	rs387907250
GWAS Ctlg	rs387907250

Max Magnitude

0

ClinVar
Risk	rs387907250(G;G)
Alt	rs387907250(G;G)
Reference	Rs387907250(A;A)
Significance	Pathogenic
Disease	Pulmonary fibrosis and/or bone marrow failure
Variation	info
Gene	TERT
CLNDBN	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1
Reversed	1
HGVS	NC_000005.9:g.1264657T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000030630.25,