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rs199473681

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TC;TC) 0 common in clinvar
Make rs199473681(AT;AT)
Make rs199473681(AT;TC)
ReferenceGRCh38 38.1/141
Chromosome17
Position8228591
GeneCTC1
is asnp
is mentioned by
dbSNPrs199473681
ebirs199473681
HLIrs199473681
Exacrs199473681
Varsomers199473681
Maprs199473681
PheGenIrs199473681
hapmaprs199473681
1000 genomesrs199473681
hgdprs199473681
ensemblrs199473681
gopubmedrs199473681
geneviewrs199473681
scholarrs199473681
googlers199473681
pharmgkbrs199473681
gwascentralrs199473681
openSNPrs199473681
23andMers199473681
23andMe allrs199473681
SNP Nexus

SNPshotrs199473681
SNPdbers199473681
MSV3drs199473681
GWAS Ctlgrs199473681
Max Magnitude0
ClinVar
Risk rs199473681(AT;AT)
Alt rs199473681(AT;AT)
Reference rs199473681(TC;TC)
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.8131909_8131910delGAinsAT
CLNSRC
CLNACC


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