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rs199422287

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199422287(A;A)
Make rs199422287(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position169764611
GeneTERC
is asnp
is mentioned by
dbSNPrs199422287
dbSNP (classic)rs199422287
ClinGenrs199422287
ebirs199422287
HLIrs199422287
Exacrs199422287
Gnomadrs199422287
Varsomers199422287
LitVarrs199422287
Maprs199422287
PheGenIrs199422287
Biobankrs199422287
1000 genomesrs199422287
hgdprs199422287
ensemblrs199422287
geneviewrs199422287
scholarrs199422287
googlers199422287
pharmgkbrs199422287
gwascentralrs199422287
openSNPrs199422287
23andMers199422287
SNPshotrs199422287
SNPdbers199422287
MSV3drs199422287
GWAS Ctlgrs199422287
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 rs199422287(A;A)
Alt rs199422287(A;A)
Reference Rs199422287(G;G)
Significance Pathogenic
Disease Aplastic anemia Dyskeratosis congenita autosomal dominant
Variation info
Gene TERC
CLNDBN Aplastic anemia Dyskeratosis congenita autosomal dominant
Reversed 1
HGVS NC_000003.11:g.169482399C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000032576.1, RCV000467315.1,