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rs771481304

From SNPedia

Orientationplus
Geno Mag Summary
(TTCA;TTCA) 0 common in clinvar
Make rs771481304(-;-)
Make rs771481304(-;TTCA)
ReferenceGRCh38.p2 38.2/147
Chromosome4
Position106247264
GeneTBCK
is asnp
is mentioned by
dbSNPrs771481304
ebirs771481304
HLIrs771481304
Exacrs771481304
Varsomers771481304
Maprs771481304
PheGenIrs771481304
hapmaprs771481304
1000 genomesrs771481304
hgdprs771481304
ensemblrs771481304
gopubmedrs771481304
geneviewrs771481304
scholarrs771481304
googlers771481304
pharmgkbrs771481304
gwascentralrs771481304
openSNPrs771481304
23andMers771481304
23andMe allrs771481304
SNP Nexus

SNPshotrs771481304
SNPdbers771481304
MSV3drs771481304
GWAS Ctlgrs771481304
Max Magnitude0
ClinVar
Risk rs771481304(;)
Alt rs771481304(;)
Reference rs771481304(TTCA;TTCA)
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.107168421_107168424delTTCA
CLNSRC OMIM Allelic Variant
CLNACC RCV000210878.2,