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rs376699648

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs376699648(A;A)
Make rs376699648(A;T)
ReferenceGRCh38.p2 38.2/147
Chromosome4
Position106235355
GeneTBCK
is asnp
is mentioned by
dbSNPrs376699648
ebirs376699648
HLIrs376699648
Exacrs376699648
Varsomers376699648
Maprs376699648
PheGenIrs376699648
hapmaprs376699648
1000 genomesrs376699648
hgdprs376699648
ensemblrs376699648
gopubmedrs376699648
geneviewrs376699648
scholarrs376699648
googlers376699648
pharmgkbrs376699648
gwascentralrs376699648
openSNPrs376699648
23andMers376699648
23andMe allrs376699648
SNP Nexus

SNPshotrs376699648
SNPdbers376699648
MSV3drs376699648
GWAS Ctlgrs376699648
Max Magnitude0
ClinVar
Risk rs376699648(A;A)
Alt rs376699648(A;A)
Reference rs376699648(T;T)
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.107156512T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000210872.2,