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rs199422280

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199422280(A;A)
Make rs199422280(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position169764739
GeneTERC
is asnp
is mentioned by
dbSNPrs199422280
dbSNP (classic)rs199422280
ClinGenrs199422280
ebirs199422280
HLIrs199422280
Exacrs199422280
Gnomadrs199422280
Varsomers199422280
LitVarrs199422280
Maprs199422280
PheGenIrs199422280
Biobankrs199422280
1000 genomesrs199422280
hgdprs199422280
ensemblrs199422280
geneviewrs199422280
scholarrs199422280
googlers199422280
pharmgkbrs199422280
gwascentralrs199422280
openSNPrs199422280
23andMers199422280
SNPshotrs199422280
SNPdbers199422280
MSV3drs199422280
GWAS Ctlgrs199422280
Max Magnitude0

[PMID 27569544OA-icon.png] 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 rs199422280(A;A)
Alt rs199422280(A;A)
Reference Rs199422280(G;G)
Significance Pathogenic
Disease Aplastic anemia
Variation info
Gene TERC
CLNDBN Aplastic anemia
Reversed 1
HGVS NC_000003.11:g.169482527C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000032570.1,