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rs137852701

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852701(C;C)
Make rs137852701(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position40092085
GenePPT1
is asnp
is mentioned by
dbSNPrs137852701
ebirs137852701
HLIrs137852701
Exacrs137852701
Varsomers137852701
Maprs137852701
PheGenIrs137852701
hapmaprs137852701
1000 genomesrs137852701
hgdprs137852701
ensemblrs137852701
gopubmedrs137852701
geneviewrs137852701
scholarrs137852701
googlers137852701
pharmgkbrs137852701
gwascentralrs137852701
openSNPrs137852701
23andMers137852701
23andMe allrs137852701
SNP Nexus

SNPshotrs137852701
SNPdbers137852701
MSV3drs137852701
GWAS Ctlgrs137852701
Max Magnitude0
OMIM600722
Desc
Variant0009
Relatedalso
ClinVar
Risk rs137852701(C;C)
Alt rs137852701(C;C)
Reference rs137852701(G;G)
Significance Pathogenic
Disease Ceroid lipofuscinosis neuronal 1
Variation info
Gene PPT1
CLNDBN Ceroid lipofuscinosis neuronal 1
Reversed 1
HGVS NC_000001.10:g.40557757C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009458.2,