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rs387906840

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387906840(A;C)
Make rs387906840(C;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position49186824
GeneTUBA1A
is asnp
is mentioned by
dbSNPrs387906840
ebirs387906840
HLIrs387906840
Exacrs387906840
Varsomers387906840
Maprs387906840
PheGenIrs387906840
hapmaprs387906840
1000 genomesrs387906840
hgdprs387906840
ensemblrs387906840
gopubmedrs387906840
geneviewrs387906840
scholarrs387906840
googlers387906840
pharmgkbrs387906840
gwascentralrs387906840
openSNPrs387906840
23andMers387906840
23andMe allrs387906840
SNP Nexus

SNPshotrs387906840
SNPdbers387906840
MSV3drs387906840
GWAS Ctlgrs387906840
Max Magnitude0
ClinVar
Risk rs387906840(C;C)
Alt rs387906840(C;C)
Reference rs387906840(A;A)
Significance Pathogenic
Disease Lissencephaly 3
Variation info
Gene TUBA1A
CLNDBN Lissencephaly 3
Reversed 1
HGVS NC_000012.11:g.49580607T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000023197.3,