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rs587777428

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777428(C;T)
Make rs587777428(T;T)
ReferenceGRCh38 38.1/142
Chromosome19
Position6495271
GeneTUBB4A
is asnp
is mentioned by
dbSNPrs587777428
dbSNP (classic)rs587777428
ClinGenrs587777428
ebirs587777428
HLIrs587777428
Exacrs587777428
Gnomadrs587777428
Varsomers587777428
LitVarrs587777428
Maprs587777428
PheGenIrs587777428
Biobankrs587777428
1000 genomesrs587777428
hgdprs587777428
ensemblrs587777428
geneviewrs587777428
scholarrs587777428
googlers587777428
pharmgkbrs587777428
gwascentralrs587777428
openSNPrs587777428
23andMers587777428
SNPshotrs587777428
SNPdbers587777428
MSV3drs587777428
GWAS Ctlgrs587777428
Max Magnitude0
ClinVar
Risk Rs587777428(C;C) rs587777428(T;T)
Alt Rs587777428(C;C) rs587777428(T;T)
Reference Rs587777428(G;G)
Significance Pathogenic
Disease Leukodystrophy
Variation info
Gene TUBB4A
CLNDBN Leukodystrophy, hypomyelinating, 6
Reversed 1
HGVS NC_000019.9:g.6495282C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000122736.4,