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rs386833842

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833842(G;T)
Make rs386833842(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position35907232
GeneTYROBP
is asnp
is mentioned by
dbSNPrs386833842
ebirs386833842
HLIrs386833842
Exacrs386833842
Varsomers386833842
Maprs386833842
PheGenIrs386833842
hapmaprs386833842
1000 genomesrs386833842
hgdprs386833842
ensemblrs386833842
gopubmedrs386833842
geneviewrs386833842
scholarrs386833842
googlers386833842
pharmgkbrs386833842
gwascentralrs386833842
openSNPrs386833842
23andMers386833842
23andMe allrs386833842
SNP Nexus

SNPshotrs386833842
SNPdbers386833842
MSV3drs386833842
GWAS Ctlgrs386833842
Max Magnitude0
ClinVar
Risk rs386833842(T;T)
Alt rs386833842(T;T)
Reference rs386833842(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.36398134C>A
CLNSRC ClinVar
CLNACC RCV000049810.1,


[PMID 17125796] A novel compound heterozygous mutation in the DAP12 gene in a patient with Nasu-Hakola disease.