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rs398122367

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398122367(A;A)
Make rs398122367(A;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position33500443
GeneMAK16, TTI2
is asnp
is mentioned by
dbSNPrs398122367
ebirs398122367
HLIrs398122367
Exacrs398122367
Varsomers398122367
Maprs398122367
PheGenIrs398122367
hapmaprs398122367
1000 genomesrs398122367
hgdprs398122367
ensemblrs398122367
gopubmedrs398122367
geneviewrs398122367
scholarrs398122367
googlers398122367
pharmgkbrs398122367
gwascentralrs398122367
openSNPrs398122367
23andMers398122367
23andMe allrs398122367
SNP Nexus

SNPshotrs398122367
SNPdbers398122367
MSV3drs398122367
GWAS Ctlgrs398122367
Max Magnitude0
ClinVar
Risk rs398122367(A;A)
Alt rs398122367(A;A)
Reference rs398122367(T;T)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene TTI2 MAK16
CLNDBN Mental retardation, autosomal recessive 39
Reversed 1
HGVS NC_000008.10:g.33357961A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000074457.3,