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rs397514731

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397514731(A;G)
Make rs397514731(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position66565833
GeneCTSF
is asnp
is mentioned by
dbSNPrs397514731
ebirs397514731
HLIrs397514731
Exacrs397514731
Varsomers397514731
Maprs397514731
PheGenIrs397514731
hapmaprs397514731
1000 genomesrs397514731
hgdprs397514731
ensemblrs397514731
gopubmedrs397514731
geneviewrs397514731
scholarrs397514731
googlers397514731
pharmgkbrs397514731
gwascentralrs397514731
openSNPrs397514731
23andMers397514731
23andMe allrs397514731
SNP Nexus

SNPshotrs397514731
SNPdbers397514731
MSV3drs397514731
GWAS Ctlgrs397514731
Max Magnitude0
ClinVar
Risk rs397514731(G;G)
Alt rs397514731(G;G)
Reference rs397514731(A;A)
Significance Pathogenic
Disease Ceroid lipofuscinosis
Variation info
Gene CTSF
CLNDBN Ceroid lipofuscinosis, neuronal, 13
Reversed 1
HGVS NC_000011.9:g.66333304T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000054490.2,