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rs869320769

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs869320769(-;-)
Make rs869320769(-;TA)
Make rs869320769(TA;TA)
ReferenceGRCh38.p2 38.2/147
Chromosome4
Position106247238
GeneTBCK
is asnp
is mentioned by
dbSNPrs869320769
ebirs869320769
HLIrs869320769
Exacrs869320769
Varsomers869320769
Maprs869320769
PheGenIrs869320769
hapmaprs869320769
1000 genomesrs869320769
hgdprs869320769
ensemblrs869320769
gopubmedrs869320769
geneviewrs869320769
scholarrs869320769
googlers869320769
pharmgkbrs869320769
gwascentralrs869320769
openSNPrs869320769
23andMers869320769
23andMe allrs869320769
SNP Nexus

SNPshotrs869320769
SNPdbers869320769
MSV3drs869320769
GWAS Ctlgrs869320769
Max Magnitude0
ClinVar
Risk rs869320769(TA;TA)
Alt rs869320769(TA;TA)
Reference rs869320769(;)
Significance Pathogenic
Disease Hypotonia
Variation info
Gene TBCK
CLNDBN Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
Reversed 1
HGVS NC_000004.11:g.107168395_107168396insTA
CLNSRC OMIM Allelic Variant
CLNACC RCV000210868.2,