rs199422265

minus

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

Make rs199422265(C;G)

Make rs199422265(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

169764989

Gene

TERC

is a	snp
is	mentioned by
dbSNP	rs199422265
dbSNP (classic)	rs199422265
ClinGen	rs199422265
ebi	rs199422265
HLI	rs199422265
Exac	rs199422265
Gnomad	rs199422265
Varsome	rs199422265
LitVar	rs199422265
Map	rs199422265
PheGenI	rs199422265
Biobank	rs199422265
1000 genomes	rs199422265
hgdp	rs199422265
ensembl	rs199422265
geneview	rs199422265
scholar	rs199422265
google	rs199422265
pharmgkb	rs199422265
gwascentral	rs199422265
openSNP	rs199422265
23andMe	rs199422265
SNPshot	rs199422265
SNPdbe	rs199422265
MSV3d	rs199422265
GWAS Ctlg	rs199422265

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	rs199422265(G;G) rs199422265(T;T)
Alt	rs199422265(G;G) rs199422265(T;T)
Reference	Rs199422265(C;C)
Significance	Pathogenic
Disease	Pulmonary fibrosis and/or bone marrow failure Aplastic anemia
Variation	info
Gene	TERC
CLNDBN	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 Aplastic anemia
Reversed	1
HGVS	NC_000003.11:g.169482777G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007748.3, RCV000032581.1,