rs199422277

minus

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

Make rs199422277(C;G)

Make rs199422277(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

169764857

Gene

TERC

is a	snp
is	mentioned by
dbSNP	rs199422277
dbSNP (classic)	rs199422277
ClinGen	rs199422277
ebi	rs199422277
HLI	rs199422277
Exac	rs199422277
Gnomad	rs199422277
Varsome	rs199422277
LitVar	rs199422277
Map	rs199422277
PheGenI	rs199422277
Biobank	rs199422277
1000 genomes	rs199422277
hgdp	rs199422277
ensembl	rs199422277
geneview	rs199422277
scholar	rs199422277
google	rs199422277
pharmgkb	rs199422277
gwascentral	rs199422277
openSNP	rs199422277
23andMe	rs199422277
SNPshot	rs199422277
SNPdbe	rs199422277
MSV3d	rs199422277
GWAS Ctlg	rs199422277

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	rs199422277(G;G)
Alt	rs199422277(G;G)
Reference	Rs199422277(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.169482645G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007746.2, RCV000032564.1,