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rs374319146

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs374319146(A;A)
Make rs374319146(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position106194717
GeneTBCK
is asnp
is mentioned by
dbSNPrs374319146
ebirs374319146
HLIrs374319146
Exacrs374319146
Varsomers374319146
Maprs374319146
PheGenIrs374319146
hapmaprs374319146
1000 genomesrs374319146
hgdprs374319146
ensemblrs374319146
gopubmedrs374319146
geneviewrs374319146
scholarrs374319146
googlers374319146
pharmgkbrs374319146
gwascentralrs374319146
openSNPrs374319146
23andMers374319146
23andMe allrs374319146
SNP Nexus

SNPshotrs374319146
SNPdbers374319146
MSV3drs374319146
GWAS Ctlgrs374319146
Max Magnitude0
ClinVar
Risk rs374319146(A,T;A,T)
Alt rs374319146(A,T;A,T)
Reference rs374319146(C;C)
Significance Pathogenic
Disease Delayed reflexes Dysmorphism Global developmental delay Muscular hypotonia Seizures Ventral septal defect Hypotonia
Variation info
Gene TBCK
CLNDBN Delayed reflexes Dysmorphism Global developmental delay Muscular hypotonia Seizures Ventral septal defect Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
Reversed 0
HGVS NC_000004.11:g.107115874C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000162173.1, RCV000210876.2,