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rs199473678

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199473678(A;G)
Make rs199473678(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position8230304
GeneCTC1
is asnp
is mentioned by
dbSNPrs199473678
ebirs199473678
HLIrs199473678
Exacrs199473678
Varsomers199473678
Maprs199473678
PheGenIrs199473678
hapmaprs199473678
1000 genomesrs199473678
hgdprs199473678
ensemblrs199473678
gopubmedrs199473678
geneviewrs199473678
scholarrs199473678
googlers199473678
pharmgkbrs199473678
gwascentralrs199473678
openSNPrs199473678
23andMers199473678
23andMe allrs199473678
SNP Nexus

SNPshotrs199473678
SNPdbers199473678
MSV3drs199473678
GWAS Ctlgrs199473678
Max Magnitude0
ClinVar
Risk rs199473678(G;G)
Alt rs199473678(G;G)
Reference rs199473678(A;A)
Significance Pathogenic
Disease Cerebroretinal microangiopathy with calcifications and cysts
Variation info
Gene CTC1
CLNDBN Cerebroretinal microangiopathy with calcifications and cysts
Reversed 1
HGVS NC_000017.10:g.8133622T>C
CLNSRC
CLNACC


[PMID 22387016OA-icon.png] Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts.