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rs199473676

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199473676(G;G)
Make rs199473676(G;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position8232427
GeneCTC1
is asnp
is mentioned by
dbSNPrs199473676
ebirs199473676
HLIrs199473676
Exacrs199473676
Varsomers199473676
Maprs199473676
PheGenIrs199473676
hapmaprs199473676
1000 genomesrs199473676
hgdprs199473676
ensemblrs199473676
gopubmedrs199473676
geneviewrs199473676
scholarrs199473676
googlers199473676
pharmgkbrs199473676
gwascentralrs199473676
openSNPrs199473676
23andMers199473676
23andMe allrs199473676
SNP Nexus

SNPshotrs199473676
SNPdbers199473676
MSV3drs199473676
GWAS Ctlgrs199473676
Max Magnitude0
ClinVar
Risk rs199473676(G;G)
Alt rs199473676(G;G)
Reference rs199473676(T;T)
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.8135745A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000023993.3,


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