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rs387906804

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906804(C;T)
Make rs387906804(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position15623104
GeneTUSC3
is asnp
is mentioned by
dbSNPrs387906804
dbSNP (classic)rs387906804
ClinGenrs387906804
ebirs387906804
HLIrs387906804
Exacrs387906804
Gnomadrs387906804
Varsomers387906804
LitVarrs387906804
Maprs387906804
PheGenIrs387906804
Biobankrs387906804
1000 genomesrs387906804
hgdprs387906804
ensemblrs387906804
geneviewrs387906804
scholarrs387906804
googlers387906804
pharmgkbrs387906804
gwascentralrs387906804
openSNPrs387906804
23andMers387906804
SNPshotrs387906804
SNPdbers387906804
MSV3drs387906804
GWAS Ctlgrs387906804
Max Magnitude0
ClinVar
Risk rs387906804(T;T)
Alt rs387906804(T;T)
Reference Rs387906804(C;C)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene TUSC3
CLNDBN Mental retardation, autosomal recessive 7
Reversed 0
HGVS NC_000008.10:g.15480613C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023095.2,