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rs398122366

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398122366(C;T)
Make rs398122366(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position33503763
GeneTTI2
is asnp
is mentioned by
dbSNPrs398122366
ebirs398122366
HLIrs398122366
Exacrs398122366
Varsomers398122366
Maprs398122366
PheGenIrs398122366
hapmaprs398122366
1000 genomesrs398122366
hgdprs398122366
ensemblrs398122366
gopubmedrs398122366
geneviewrs398122366
scholarrs398122366
googlers398122366
pharmgkbrs398122366
gwascentralrs398122366
openSNPrs398122366
23andMers398122366
23andMe allrs398122366
SNP Nexus

SNPshotrs398122366
SNPdbers398122366
MSV3drs398122366
GWAS Ctlgrs398122366
Max Magnitude0
ClinVar
Risk rs398122366(A,T;A,T)
Alt rs398122366(A,T;A,T)
Reference rs398122366(C;C)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene TTI2
CLNDBN Mental retardation, autosomal recessive 39
Reversed 1
HGVS NC_000008.10:g.33361281G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000074456.4,