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rs797045074

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045074(C;C)
Make rs797045074(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position6495335
GeneTUBB4A
is asnp
is mentioned by
dbSNPrs797045074
ClinGenrs797045074
ebirs797045074
HLIrs797045074
Exacrs797045074
Varsomers797045074
Maprs797045074
PheGenIrs797045074
hapmaprs797045074
1000 genomesrs797045074
hgdprs797045074
ensemblrs797045074
gopubmedrs797045074
geneviewrs797045074
scholarrs797045074
googlers797045074
pharmgkbrs797045074
gwascentralrs797045074
openSNPrs797045074
23andMers797045074
23andMe allrs797045074
SNP Nexus

SNPshotrs797045074
SNPdbers797045074
MSV3drs797045074
GWAS Ctlgrs797045074
Max Magnitude0
ClinVar
Risk rs797045074(A;A) rs797045074(C;C)
Alt rs797045074(A;A) rs797045074(C;C)
Reference Rs797045074(G;G)
Significance Pathogenic
Disease Leukodystrophy
Variation info
Gene TUBB4A
CLNDBN Leukodystrophy, hypomyelinating, 6
Reversed 1
HGVS NC_000019.9:g.6495346C>G; NC_000019.9:g.6495346C>T
CLNSRC Baylor College of Medicine
CLNACC RCV000191139.1, RCV000258534.1,