Have questions? Visit https://www.reddit.com/r/SNPedia

rs540289812

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs540289812(C;C)
Make rs540289812(C;G)
ReferenceGRCh38.p7 38.3/149
Chromosome3
Position169765159
GeneTERC
is asnp
is mentioned by
dbSNPrs540289812
dbSNP (classic)rs540289812
ClinGenrs540289812
ebirs540289812
HLIrs540289812
Exacrs540289812
Gnomadrs540289812
Varsomers540289812
LitVarrs540289812
Maprs540289812
PheGenIrs540289812
Biobankrs540289812
1000 genomesrs540289812
hgdprs540289812
ensemblrs540289812
geneviewrs540289812
scholarrs540289812
googlers540289812
pharmgkbrs540289812
gwascentralrs540289812
openSNPrs540289812
23andMers540289812
23andMe allrs540289812
SNPshotrs540289812
SNPdbers540289812
MSV3drs540289812
GWAS Ctlgrs540289812
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 rs540289812(C;C)
Alt rs540289812(C;C)
Reference Rs540289812(G;G)
Significance Probable-non-pathogenic
Disease Dyskeratosis congenita autosomal dominant
Variation info
Gene TERC
CLNDBN Dyskeratosis congenita autosomal dominant
Reversed 0
HGVS NC_000003.11:g.169482947G>C
CLNSRC
CLNACC RCV000226128.2,