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rs199473682

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473682(C;T)
Make rs199473682(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position8228251
GeneCTC1
is asnp
is mentioned by
dbSNPrs199473682
ebirs199473682
HLIrs199473682
Exacrs199473682
Varsomers199473682
Maprs199473682
PheGenIrs199473682
hapmaprs199473682
1000 genomesrs199473682
hgdprs199473682
ensemblrs199473682
gopubmedrs199473682
geneviewrs199473682
scholarrs199473682
googlers199473682
pharmgkbrs199473682
gwascentralrs199473682
openSNPrs199473682
23andMers199473682
23andMe allrs199473682
SNP Nexus

SNPshotrs199473682
SNPdbers199473682
MSV3drs199473682
GWAS Ctlgrs199473682
Max Magnitude0
ClinVar
Risk rs199473682(T;T)
Alt rs199473682(T;T)
Reference rs199473682(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.8131569G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023994.4,


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