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rs587777429

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777429(A;A)
Make rs587777429(A;C)
ReferenceGRCh38 38.1/142
Chromosome19
Position6496032
GeneTUBB4A
is asnp
is mentioned by
dbSNPrs587777429
ebirs587777429
HLIrs587777429
Exacrs587777429
Varsomers587777429
Maprs587777429
PheGenIrs587777429
hapmaprs587777429
1000 genomesrs587777429
hgdprs587777429
ensemblrs587777429
gopubmedrs587777429
geneviewrs587777429
scholarrs587777429
googlers587777429
pharmgkbrs587777429
gwascentralrs587777429
openSNPrs587777429
23andMers587777429
23andMe allrs587777429
SNP Nexus

SNPshotrs587777429
SNPdbers587777429
MSV3drs587777429
GWAS Ctlgrs587777429
Max Magnitude0
ClinVar
Risk rs587777429(A,C;A,C)
Alt rs587777429(A,C;A,C)
Reference rs587777429(G;G)
Significance Pathogenic
Disease Leukodystrophy
Variation info
Gene TUBB4A
CLNDBN Leukodystrophy, hypomyelinating, 6
Reversed 1
HGVS NC_000019.9:g.6496043C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000122737.3,