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rs746860249

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs746860249(-;-)
Make rs746860249(-;T)
ReferenceGRCh38.p2 38.2/147
Chromosome4
Position106235348
GeneTBCK
is asnp
is mentioned by
dbSNPrs746860249
ebirs746860249
HLIrs746860249
Exacrs746860249
Varsomers746860249
Maprs746860249
PheGenIrs746860249
hapmaprs746860249
1000 genomesrs746860249
hgdprs746860249
ensemblrs746860249
gopubmedrs746860249
geneviewrs746860249
scholarrs746860249
googlers746860249
pharmgkbrs746860249
gwascentralrs746860249
openSNPrs746860249
23andMers746860249
23andMe allrs746860249
SNP Nexus

SNPshotrs746860249
SNPdbers746860249
MSV3drs746860249
GWAS Ctlgrs746860249
Max Magnitude0
ClinVar
Risk rs746860249(;)
Alt rs746860249(;)
Reference rs746860249(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.107156505delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000210867.2,