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rs199473675

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473675(-;-)
Make rs199473675(-;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position8236077
GeneCTC1
is asnp
is mentioned by
dbSNPrs199473675
ebirs199473675
HLIrs199473675
Exacrs199473675
Varsomers199473675
Maprs199473675
PheGenIrs199473675
hapmaprs199473675
1000 genomesrs199473675
hgdprs199473675
ensemblrs199473675
gopubmedrs199473675
geneviewrs199473675
scholarrs199473675
googlers199473675
pharmgkbrs199473675
gwascentralrs199473675
openSNPrs199473675
23andMers199473675
23andMe allrs199473675
SNP Nexus

SNPshotrs199473675
SNPdbers199473675
MSV3drs199473675
GWAS Ctlgrs199473675
Max Magnitude0
ClinVar
Risk rs199473675(;)
Alt rs199473675(;)
Reference rs199473675(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.8139395delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000023996.3,


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