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rs56144125

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs56144125(C;G)
Make rs56144125(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position6617154
GeneTPP1
is asnp
is mentioned by
dbSNPrs56144125
ebirs56144125
HLIrs56144125
Exacrs56144125
Varsomers56144125
Maprs56144125
PheGenIrs56144125
hapmaprs56144125
1000 genomesrs56144125
hgdprs56144125
ensemblrs56144125
gopubmedrs56144125
geneviewrs56144125
scholarrs56144125
googlers56144125
pharmgkbrs56144125
gwascentralrs56144125
openSNPrs56144125
23andMers56144125
23andMe allrs56144125
SNP Nexus

SNPshotrs56144125
SNPdbers56144125
MSV3drs56144125
GWAS Ctlgrs56144125
Max Magnitude0
ClinVar
Risk rs56144125(G,T;G,T)
Alt rs56144125(G,T;G,T)
Reference rs56144125(C;C)
Significance Pathogenic
Disease Ceroid lipofuscinosis neuronal 2 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia not provided Inborn genetic diseases Neuronal ceroid lipofuscinosis
Variation info
Gene TPP1
CLNDBN Ceroid lipofuscinosis neuronal 2 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia not provided Inborn genetic diseases Neuronal ceroid lipofuscinosis
Reversed 0
HGVS NC_000011.9:g.6638385C>G; NC_000011.9:g.6638385C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002763.10, RCV000074608.7, RCV000189765.2, RCV000210689.1, RCV000228119.1, RCV000189764.2,