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rs3027247

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs3027247(G;G)
Make rs3027247(G;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position8227549
GeneCTC1
is asnp
is mentioned by
dbSNPrs3027247
dbSNP (old)rs3027247
ClinGenrs3027247
ebirs3027247
HLIrs3027247
Exacrs3027247
Gnomadrs3027247
Varsomers3027247
Maprs3027247
PheGenIrs3027247
Biobankrs3027247
1000 genomesrs3027247
hgdprs3027247
ensemblrs3027247
gopubmedrs3027247
geneviewrs3027247
scholarrs3027247
googlers3027247
pharmgkbrs3027247
gwascentralrs3027247
openSNPrs3027247
23andMers3027247
23andMe allrs3027247
SNP Nexus

SNPshotrs3027247
SNPdbers3027247
MSV3drs3027247
GWAS Ctlgrs3027247
GMAF0.3186
Max Magnitude0
? (G;G) (G;T) (T;T) 28
GWAS snp
PMID [PMID 22658654OA-icon.png]
Trait
Title Genomic determinants of motor and cognitive outcomes in Parkinson's disease.
Risk Allele
P-val 0.000009
Odds Ratio 1.8900 None


ClinVar
Risk rs3027247(G;G)
Alt rs3027247(G;G)
Reference Rs3027247(T;T)
Significance Non-pathogenic
Disease Dyskeratosis Congenita
Variation info
Gene CTC1
CLNDBN Dyskeratosis Congenita, Recessive
Reversed 1
HGVS NC_000017.10:g.8130867A>C
CLNSRC
CLNACC RCV000332835.1,