rs199422272

minus

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

Make rs199422272(C;T)

Make rs199422272(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

169764945

Gene

TERC

is a	snp
is	mentioned by
dbSNP	rs199422272
dbSNP (classic)	rs199422272
ClinGen	rs199422272
ebi	rs199422272
HLI	rs199422272
Exac	rs199422272
Gnomad	rs199422272
Varsome	rs199422272
LitVar	rs199422272
Map	rs199422272
PheGenI	rs199422272
Biobank	rs199422272
1000 genomes	rs199422272
hgdp	rs199422272
ensembl	rs199422272
geneview	rs199422272
scholar	rs199422272
google	rs199422272
pharmgkb	rs199422272
gwascentral	rs199422272
openSNP	rs199422272
23andMe	rs199422272
SNPshot	rs199422272
SNPdbe	rs199422272
MSV3d	rs199422272
GWAS Ctlg	rs199422272

Max Magnitude

0

[PMID 27569544 ] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.

ClinVar
Risk	rs199422272(T;T)
Alt	rs199422272(T;T)
Reference	Rs199422272(C;C)
Significance	Pathogenic
Disease	Pulmonary fibrosis and/or bone marrow failure Dyskeratosis congenita autosomal dominant
Variation	info
Gene	TERC
CLNDBN	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 Dyskeratosis congenita autosomal dominant
Reversed	1
HGVS	NC_000003.11:g.169482733G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007750.2, RCV000032559.1,