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rs575822089

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs575822089(A;A)
Make rs575822089(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome4
Position106262103
GeneTBCK
is asnp
is mentioned by
dbSNPrs575822089
ebirs575822089
HLIrs575822089
Exacrs575822089
Varsomers575822089
Maprs575822089
PheGenIrs575822089
hapmaprs575822089
1000 genomesrs575822089
hgdprs575822089
ensemblrs575822089
gopubmedrs575822089
geneviewrs575822089
scholarrs575822089
googlers575822089
pharmgkbrs575822089
gwascentralrs575822089
openSNPrs575822089
23andMers575822089
23andMe allrs575822089
SNP Nexus

SNPshotrs575822089
SNPdbers575822089
MSV3drs575822089
GWAS Ctlgrs575822089
Max Magnitude0
ClinVar
Risk rs575822089(A;A)
Alt rs575822089(A;A)
Reference rs575822089(G;G)
Significance Pathogenic
Disease Hypotonia
Variation info
Gene TBCK
CLNDBN Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
Reversed 0
HGVS NC_000004.11:g.107183260G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000210864.2,