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rs386833839

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833839(A;A)
Make rs386833839(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position35907559
GeneTYROBP
is asnp
is mentioned by
dbSNPrs386833839
ebirs386833839
HLIrs386833839
Exacrs386833839
Varsomers386833839
Maprs386833839
PheGenIrs386833839
hapmaprs386833839
1000 genomesrs386833839
hgdprs386833839
ensemblrs386833839
gopubmedrs386833839
geneviewrs386833839
scholarrs386833839
googlers386833839
pharmgkbrs386833839
gwascentralrs386833839
openSNPrs386833839
23andMers386833839
23andMe allrs386833839
SNP Nexus

SNPshotrs386833839
SNPdbers386833839
MSV3drs386833839
GWAS Ctlgrs386833839
Max Magnitude0
ClinVar
Risk rs386833839(A;A)
Alt rs386833839(A;A)
Reference rs386833839(G;G)
Significance Probable-Pathogenic
Disease Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
Variation info
Gene TYROBP
CLNDBN Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
Reversed 1
HGVS NC_000019.9:g.36398461C>T
CLNSRC ClinVar
CLNACC RCV000049807.1,


[PMID 20500450] Nasu-Hakola disease: The first case reported by Nasu and review.