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rs587776983

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587776983(C;C)
Make rs587776983(C;G)
ReferenceGRCh38 38.1/142
Chromosome19
Position6502209
GeneTUBB4A
is asnp
is mentioned by
dbSNPrs587776983
ebirs587776983
HLIrs587776983
Exacrs587776983
Varsomers587776983
Maprs587776983
PheGenIrs587776983
hapmaprs587776983
1000 genomesrs587776983
hgdprs587776983
ensemblrs587776983
gopubmedrs587776983
geneviewrs587776983
scholarrs587776983
googlers587776983
pharmgkbrs587776983
gwascentralrs587776983
openSNPrs587776983
23andMers587776983
23andMe allrs587776983
SNP Nexus

SNPshotrs587776983
SNPdbers587776983
MSV3drs587776983
GWAS Ctlgrs587776983
Max Magnitude0
ClinVar
Risk rs587776983(C,T;C,T)
Alt rs587776983(C,T;C,T)
Reference rs587776983(G;G)
Significance Pathogenic
Disease Autosomal dominant torsion dystonia 4
Variation info
Gene TUBB4A
CLNDBN Autosomal dominant torsion dystonia 4
Reversed 0
HGVS NC_000019.9:g.6502220G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000043680.4,