rs113487931

Orientation

plus

Stabilized

plus

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

Make rs113487931(C;T)

Make rs113487931(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

169765003

Gene

TERC

is a	snp
is	mentioned by
dbSNP	rs113487931
dbSNP (classic)	rs113487931
ClinGen	rs113487931
ebi	rs113487931
HLI	rs113487931
Exac	rs113487931
Gnomad	rs113487931
Varsome	rs113487931
LitVar	rs113487931
Map	rs113487931
PheGenI	rs113487931
Biobank	rs113487931
1000 genomes	rs113487931
hgdp	rs113487931
ensembl	rs113487931
geneview	rs113487931
scholar	rs113487931
google	rs113487931
pharmgkb	rs113487931
gwascentral	rs113487931
openSNP	rs113487931
23andMe	rs113487931
SNPshot	rs113487931
SNPdbe	rs113487931
MSV3d	rs113487931
GWAS Ctlg	rs113487931

GMAF

0.01377

Max Magnitude

0

OMIM	602322
Desc
Variant	0004
Related	also

ClinVar
Risk	rs113487931(T;T)
Alt	rs113487931(T;T)
Reference	Rs113487931(C;C)
Significance	Pathogenic
Disease	Pulmonary fibrosis and/or bone marrow failure Aplastic anemia Dyskeratosis congenita autosomal dominant not specified
Variation	info
Gene	TERC
CLNDBN	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 Aplastic anemia Dyskeratosis congenita autosomal dominant not specified
Reversed	0
HGVS	NC_000003.11:g.169482791C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007747.2, RCV000032580.1, RCV000229649.2, RCV000421480.1,