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rs199473679

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GTT;GTT) 0 common in clinvar
Make rs199473679(-;-)
Make rs199473679(-;GTT)
ReferenceGRCh38 38.1/141
Chromosome17
Position8229946
GeneCTC1
is asnp
is mentioned by
dbSNPrs199473679
ebirs199473679
HLIrs199473679
Exacrs199473679
Varsomers199473679
Maprs199473679
PheGenIrs199473679
hapmaprs199473679
1000 genomesrs199473679
hgdprs199473679
ensemblrs199473679
gopubmedrs199473679
geneviewrs199473679
scholarrs199473679
googlers199473679
pharmgkbrs199473679
gwascentralrs199473679
openSNPrs199473679
23andMers199473679
23andMe allrs199473679
SNP Nexus

SNPshotrs199473679
SNPdbers199473679
MSV3drs199473679
GWAS Ctlgrs199473679
Max Magnitude0
ClinVar
Risk rs199473679(;)
Alt rs199473679(;)
Reference rs199473679(GTT;GTT)
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.8133264_8133266delAAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000033248.5,


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