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rs148412181

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs148412181(C;T)
Make rs148412181(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position40080483
GenePPT1
is asnp
is mentioned by
dbSNPrs148412181
ebirs148412181
HLIrs148412181
Exacrs148412181
Varsomers148412181
Maprs148412181
PheGenIrs148412181
hapmaprs148412181
1000 genomesrs148412181
hgdprs148412181
ensemblrs148412181
gopubmedrs148412181
geneviewrs148412181
scholarrs148412181
googlers148412181
pharmgkbrs148412181
gwascentralrs148412181
openSNPrs148412181
23andMers148412181
23andMe allrs148412181
SNP Nexus

SNPshotrs148412181
SNPdbers148412181
MSV3drs148412181
GWAS Ctlgrs148412181
Max Magnitude0
ClinVar
Risk rs148412181(A,T;A,T)
Alt rs148412181(A,T;A,T)
Reference rs148412181(C;C)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 1
Variation info
Gene PPT1
CLNDBN Ceroid lipofuscinosis neuronal 1
Reversed 0
HGVS NC_000001.10:g.40546155C>A; NC_000001.10:g.40546155C>T
CLNSRC ClinVar
CLNACC RCV000049613.1, RCV000169209.1,


[PMID 21990111] Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.