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rs879255627

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs879255627(A;A)
Make rs879255627(A;C)
ReferenceGRCh38.p7 38.3/149
Chromosome5
Position14397112
GeneTRIO
is asnp
is mentioned by
dbSNPrs879255627
dbSNP (classic)rs879255627
ClinGenrs879255627
ebirs879255627
HLIrs879255627
Exacrs879255627
Gnomadrs879255627
Varsomers879255627
LitVarrs879255627
Maprs879255627
PheGenIrs879255627
Biobankrs879255627
1000 genomesrs879255627
hgdprs879255627
ensemblrs879255627
geneviewrs879255627
scholarrs879255627
googlers879255627
pharmgkbrs879255627
gwascentralrs879255627
openSNPrs879255627
23andMers879255627
SNPshotrs879255627
SNPdbers879255627
MSV3drs879255627
GWAS Ctlgrs879255627
Max Magnitude0
ClinVar
Risk rs879255627(A;A)
Alt rs879255627(A;A)
Reference Rs879255627(C;C)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene TRIO
CLNDBN Mental retardation, autosomal dominant 44
Reversed 0
HGVS NC_000005.9:g.14397221C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000239509.2,