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rs587777467

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777467(C;T)
Make rs587777467(T;T)
ReferenceGRCh38 38.1/142
Chromosome19
Position6502208
GeneTUBB4A
is asnp
is mentioned by
dbSNPrs587777467
dbSNP (classic)rs587777467
ClinGenrs587777467
ebirs587777467
HLIrs587777467
Exacrs587777467
Gnomadrs587777467
Varsomers587777467
LitVarrs587777467
Maprs587777467
PheGenIrs587777467
Biobankrs587777467
1000 genomesrs587777467
hgdprs587777467
ensemblrs587777467
geneviewrs587777467
scholarrs587777467
googlers587777467
pharmgkbrs587777467
gwascentralrs587777467
openSNPrs587777467
23andMers587777467
SNPshotrs587777467
SNPdbers587777467
MSV3drs587777467
GWAS Ctlgrs587777467
Max Magnitude0
ClinVar
Risk Rs587777467(C;C) rs587777467(T;T)
Alt Rs587777467(C;C) rs587777467(T;T)
Reference Rs587777467(G;G)
Significance Pathogenic
Disease Leukodystrophy not provided
Variation info
Gene TUBB4A
CLNDBN Leukodystrophy, hypomyelinating, 6 not provided
Reversed 1
HGVS NC_000019.9:g.6502219C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000128409.3, RCV000350313.1,