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rs137852695

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 3 Neuronal Ceroid Lipofuscinosis carrier
(T;T) 5 Neuronal Ceroid Lipofuscinosis
ReferenceGRCh38 38.1/141
Chromosome1
Position40091398
GenePPT1
is asnp
is mentioned by
dbSNPrs137852695
ClinGenrs137852695
ebirs137852695
HLIrs137852695
Exacrs137852695
Varsomers137852695
Maprs137852695
PheGenIrs137852695
hapmaprs137852695
1000 genomesrs137852695
hgdprs137852695
ensemblrs137852695
gopubmedrs137852695
geneviewrs137852695
scholarrs137852695
googlers137852695
pharmgkbrs137852695
gwascentralrs137852695
openSNPrs137852695
23andMers137852695
23andMe allrs137852695
SNP Nexus

SNPshotrs137852695
SNPdbers137852695
MSV3drs137852695
GWAS Ctlgrs137852695
GMAF0.001377
Max Magnitude5
Neuronal ceroid lipofuscinosis (PPT1-related)
OMIM600722
Desc
Variant0001
Relatedalso
ClinVar
Risk Rs137852695(T;T)
Alt Rs137852695(T;T)
Reference Rs137852695(A;A)
Significance Pathogenic
Disease Ceroid lipofuscinosis neuronal 1 not provided
Variation info
Gene PPT1
CLNDBN Ceroid lipofuscinosis neuronal 1 not provided
Reversed 1
HGVS NC_000001.10:g.40557070T>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000009450.2, RCV000188724.2,