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rs869320711

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869320711(A;A)
Make rs869320711(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome4
Position106233045
GeneTBCK
is asnp
is mentioned by
dbSNPrs869320711
ebirs869320711
HLIrs869320711
Exacrs869320711
Varsomers869320711
Maprs869320711
PheGenIrs869320711
hapmaprs869320711
1000 genomesrs869320711
hgdprs869320711
ensemblrs869320711
gopubmedrs869320711
geneviewrs869320711
scholarrs869320711
googlers869320711
pharmgkbrs869320711
gwascentralrs869320711
openSNPrs869320711
23andMers869320711
23andMe allrs869320711
SNP Nexus

SNPshotrs869320711
SNPdbers869320711
MSV3drs869320711
GWAS Ctlgrs869320711
Max Magnitude0
ClinVar
Risk rs869320711(A;A)
Alt rs869320711(A;A)
Reference rs869320711(G;G)
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.107154202C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000210879.2,