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rs397514660

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514660(C;T)
Make rs397514660(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position8236276
GeneCTC1
is asnp
is mentioned by
dbSNPrs397514660
ebirs397514660
HLIrs397514660
Exacrs397514660
Varsomers397514660
Maprs397514660
PheGenIrs397514660
hapmaprs397514660
1000 genomesrs397514660
hgdprs397514660
ensemblrs397514660
gopubmedrs397514660
geneviewrs397514660
scholarrs397514660
googlers397514660
pharmgkbrs397514660
gwascentralrs397514660
openSNPrs397514660
23andMers397514660
23andMe allrs397514660
SNP Nexus

SNPshotrs397514660
SNPdbers397514660
MSV3drs397514660
GWAS Ctlgrs397514660
Max Magnitude0
ClinVar
Risk rs397514660(T;T)
Alt rs397514660(T;T)
Reference rs397514660(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.8139594G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000033249.4,