Have questions? Visit https://www.reddit.com/r/SNPedia

rs587777074

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777074(C;T)
Make rs587777074(T;T)
ReferenceGRCh38 38.1/142
Chromosome19
Position6495688
GeneTUBB4A
is asnp
is mentioned by
dbSNPrs587777074
ebirs587777074
HLIrs587777074
Exacrs587777074
Varsomers587777074
Maprs587777074
PheGenIrs587777074
hapmaprs587777074
1000 genomesrs587777074
hgdprs587777074
ensemblrs587777074
gopubmedrs587777074
geneviewrs587777074
scholarrs587777074
googlers587777074
pharmgkbrs587777074
gwascentralrs587777074
openSNPrs587777074
23andMers587777074
23andMe allrs587777074
SNP Nexus

SNPshotrs587777074
SNPdbers587777074
MSV3drs587777074
GWAS Ctlgrs587777074
Max Magnitude0
ClinVar
Risk rs587777074(T;T)
Alt rs587777074(T;T)
Reference rs587777074(C;C)
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.6495699C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000077783.3,