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rs397514733

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514733(C;T)
Make rs397514733(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position66563949
GeneCTSF
is asnp
is mentioned by
dbSNPrs397514733
ebirs397514733
HLIrs397514733
Exacrs397514733
Varsomers397514733
Maprs397514733
PheGenIrs397514733
hapmaprs397514733
1000 genomesrs397514733
hgdprs397514733
ensemblrs397514733
gopubmedrs397514733
geneviewrs397514733
scholarrs397514733
googlers397514733
pharmgkbrs397514733
gwascentralrs397514733
openSNPrs397514733
23andMers397514733
23andMe allrs397514733
SNP Nexus

SNPshotrs397514733
SNPdbers397514733
MSV3drs397514733
GWAS Ctlgrs397514733
Max Magnitude0
ClinVar
Risk rs397514733(T;T)
Alt rs397514733(T;T)
Reference rs397514733(C;C)
Significance Pathogenic
Disease Ceroid lipofuscinosis
Variation info
Gene CTSF
CLNDBN Ceroid lipofuscinosis, neuronal, 13
Reversed 1
HGVS NC_000011.9:g.66331420G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000054492.3,