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rs143889283

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs143889283(C;C)
Make rs143889283(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position66566320
GeneCTSF
is asnp
is mentioned by
dbSNPrs143889283
ebirs143889283
HLIrs143889283
Exacrs143889283
Varsomers143889283
Maprs143889283
PheGenIrs143889283
hapmaprs143889283
1000 genomesrs143889283
hgdprs143889283
ensemblrs143889283
gopubmedrs143889283
geneviewrs143889283
scholarrs143889283
googlers143889283
pharmgkbrs143889283
gwascentralrs143889283
openSNPrs143889283
23andMers143889283
23andMe allrs143889283
SNP Nexus

SNPshotrs143889283
SNPdbers143889283
MSV3drs143889283
GWAS Ctlgrs143889283
Max Magnitude0
ClinVar
Risk rs143889283(C;C)
Alt rs143889283(C;C)
Reference rs143889283(T;T)
Significance Pathogenic
Disease Ceroid lipofuscinosis
Variation info
Gene CTSF
CLNDBN Ceroid lipofuscinosis, neuronal, 13
Reversed 0
HGVS NC_000011.9:g.66333791T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000054493.4,