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rs199473680

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473680(-;-)
Make rs199473680(-;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position8229439
GeneCTC1
is asnp
is mentioned by
dbSNPrs199473680
ebirs199473680
HLIrs199473680
Exacrs199473680
Varsomers199473680
Maprs199473680
PheGenIrs199473680
hapmaprs199473680
1000 genomesrs199473680
hgdprs199473680
ensemblrs199473680
gopubmedrs199473680
geneviewrs199473680
scholarrs199473680
googlers199473680
pharmgkbrs199473680
gwascentralrs199473680
openSNPrs199473680
23andMers199473680
23andMe allrs199473680
SNP Nexus

SNPshotrs199473680
SNPdbers199473680
MSV3drs199473680
GWAS Ctlgrs199473680
Max Magnitude0
ClinVar
Risk rs199473680(;)
Alt rs199473680(;)
Reference rs199473680(C;C)
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.8132757delG
CLNSRC
CLNACC


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