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rs199473674

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AAAG;AAAG) 0 common in clinvar
Make rs199473674(-;-)
Make rs199473674(-;AAAG)
ReferenceGRCh38 38.1/141
Chromosome17
Position8237440
GeneCTC1
is asnp
is mentioned by
dbSNPrs199473674
ebirs199473674
HLIrs199473674
Exacrs199473674
Varsomers199473674
Maprs199473674
PheGenIrs199473674
hapmaprs199473674
1000 genomesrs199473674
hgdprs199473674
ensemblrs199473674
gopubmedrs199473674
geneviewrs199473674
scholarrs199473674
googlers199473674
pharmgkbrs199473674
gwascentralrs199473674
openSNPrs199473674
23andMers199473674
23andMe allrs199473674
SNP Nexus

SNPshotrs199473674
SNPdbers199473674
MSV3drs199473674
GWAS Ctlgrs199473674
Max Magnitude0
ClinVar
Risk rs199473674(;)
Alt rs199473674(;)
Reference rs199473674(AAAG;AAAG)
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.8140758_8140761delCTTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000023986.4,


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