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rs104894003

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894003(C;T)
Make rs104894003(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position5528536
GeneACTB, PTPLA
is asnp
is mentioned by
dbSNPrs104894003
ebirs104894003
HLIrs104894003
Exacrs104894003
Varsomers104894003
Maprs104894003
PheGenIrs104894003
hapmaprs104894003
1000 genomesrs104894003
hgdprs104894003
ensemblrs104894003
gopubmedrs104894003
geneviewrs104894003
scholarrs104894003
googlers104894003
pharmgkbrs104894003
gwascentralrs104894003
openSNPrs104894003
23andMers104894003
23andMe allrs104894003
SNP Nexus

SNPshotrs104894003
SNPdbers104894003
MSV3drs104894003
GWAS Ctlgrs104894003
Max Magnitude0
OMIM102630
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894003(T;T)
Alt rs104894003(T;T)
Reference rs104894003(C;C)
Significance Pathogenic
Disease Juvenile-onset dystonia
Variation info
Gene ACTB
CLNDBN Juvenile-onset dystonia
Reversed 1
HGVS NC_000007.13:g.5568167G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019937.28,