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rs104894732

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894732(C;C)
Make rs104894732(C;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position35908227
GeneTYROBP
is asnp
is mentioned by
dbSNPrs104894732
dbSNP (classic)rs104894732
ClinGenrs104894732
ebirs104894732
HLIrs104894732
Exacrs104894732
Gnomadrs104894732
Varsomers104894732
LitVarrs104894732
Maprs104894732
PheGenIrs104894732
Biobankrs104894732
1000 genomesrs104894732
hgdprs104894732
ensemblrs104894732
geneviewrs104894732
scholarrs104894732
googlers104894732
pharmgkbrs104894732
gwascentralrs104894732
openSNPrs104894732
23andMers104894732
SNPshotrs104894732
SNPdbers104894732
MSV3drs104894732
GWAS Ctlgrs104894732
Max Magnitude0
OMIM604142
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894732(C;C)
Alt rs104894732(C;C)
Reference Rs104894732(T;T)
Significance 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.36399129A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000006153.2,