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rs199473677

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473677(-;-)
Make rs199473677(-;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position8230396
GeneCTC1
is asnp
is mentioned by
dbSNPrs199473677
ebirs199473677
HLIrs199473677
Exacrs199473677
Varsomers199473677
Maprs199473677
PheGenIrs199473677
hapmaprs199473677
1000 genomesrs199473677
hgdprs199473677
ensemblrs199473677
gopubmedrs199473677
geneviewrs199473677
scholarrs199473677
googlers199473677
pharmgkbrs199473677
gwascentralrs199473677
openSNPrs199473677
23andMers199473677
23andMe allrs199473677
SNP Nexus

SNPshotrs199473677
SNPdbers199473677
MSV3drs199473677
GWAS Ctlgrs199473677
Max Magnitude0
ClinVar
Risk rs199473677(;)
Alt rs199473677(;)
Reference rs199473677(C;C)
Significance Pathogenic
Disease Cerebroretinal microangiopathy with calcifications and cysts Dyskeratosis congenita
Variation info
Gene CTC1
CLNDBN Cerebroretinal microangiopathy with calcifications and cysts Dyskeratosis congenita
Reversed 1
HGVS NC_000017.10:g.8133714delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000023991.3, RCV000233824.1,


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