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rs62321379

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs62321379(C;C)
Make rs62321379(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome4
Position106171272
GeneTBCK
is asnp
is mentioned by
dbSNPrs62321379
ebirs62321379
HLIrs62321379
Exacrs62321379
Varsomers62321379
Maprs62321379
PheGenIrs62321379
hapmaprs62321379
1000 genomesrs62321379
hgdprs62321379
ensemblrs62321379
gopubmedrs62321379
geneviewrs62321379
scholarrs62321379
googlers62321379
pharmgkbrs62321379
gwascentralrs62321379
openSNPrs62321379
23andMers62321379
23andMe allrs62321379
SNP Nexus

SNPshotrs62321379
SNPdbers62321379
MSV3drs62321379
GWAS Ctlgrs62321379
Max Magnitude0
ClinVar
Risk rs62321379(C;C)
Alt rs62321379(C;C)
Reference rs62321379(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.107092429T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000210871.2,