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rs137852698

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852698(A;A)
Make rs137852698(A;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position40078630
GenePPT1
is asnp
is mentioned by
dbSNPrs137852698
ebirs137852698
HLIrs137852698
Exacrs137852698
Varsomers137852698
Maprs137852698
PheGenIrs137852698
hapmaprs137852698
1000 genomesrs137852698
hgdprs137852698
ensemblrs137852698
gopubmedrs137852698
geneviewrs137852698
scholarrs137852698
googlers137852698
pharmgkbrs137852698
gwascentralrs137852698
openSNPrs137852698
23andMers137852698
23andMe allrs137852698
SNP Nexus

SNPshotrs137852698
SNPdbers137852698
MSV3drs137852698
GWAS Ctlgrs137852698
Max Magnitude0
OMIM600722
Desc
Variant0004
Relatedalso
ClinVar
Risk rs137852698(A;A)
Alt rs137852698(A;A)
Reference rs137852698(T;T)
Significance Pathogenic
Disease Ceroid lipofuscinosis neuronal 1
Variation info
Gene PPT1
CLNDBN Ceroid lipofuscinosis neuronal 1
Reversed 1
HGVS NC_000001.10:g.40544302A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009453.2,