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rs199473673

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473673(C;T)
Make rs199473673(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position8237487
GeneCTC1
is asnp
is mentioned by
dbSNPrs199473673
ebirs199473673
HLIrs199473673
Exacrs199473673
Varsomers199473673
Maprs199473673
PheGenIrs199473673
hapmaprs199473673
1000 genomesrs199473673
hgdprs199473673
ensemblrs199473673
gopubmedrs199473673
geneviewrs199473673
scholarrs199473673
googlers199473673
pharmgkbrs199473673
gwascentralrs199473673
openSNPrs199473673
23andMers199473673
23andMe allrs199473673
SNP Nexus

SNPshotrs199473673
SNPdbers199473673
MSV3drs199473673
GWAS Ctlgrs199473673
Max Magnitude0
ClinVar
Risk rs199473673(T;T)
Alt rs199473673(T;T)
Reference rs199473673(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.8140805G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023995.5,


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