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rs753719501

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs753719501(A;A)
Make rs753719501(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position49185142
GeneTUBA1A
is asnp
is mentioned by
dbSNPrs753719501
ebirs753719501
HLIrs753719501
Exacrs753719501
Varsomers753719501
Maprs753719501
PheGenIrs753719501
hapmaprs753719501
1000 genomesrs753719501
hgdprs753719501
ensemblrs753719501
gopubmedrs753719501
geneviewrs753719501
scholarrs753719501
googlers753719501
pharmgkbrs753719501
gwascentralrs753719501
openSNPrs753719501
23andMers753719501
23andMe allrs753719501
SNP Nexus

SNPshotrs753719501
SNPdbers753719501
MSV3drs753719501
GWAS Ctlgrs753719501
Max Magnitude0
ClinVar
Risk rs753719501(A;A)
Alt rs753719501(A;A)
Reference rs753719501(G;G)
Significance Pathogenic
Disease Lissencephaly 3
Variation info
Gene TUBA1A
CLNDBN Lissencephaly 3
Reversed 0
HGVS NC_000012.11:g.49578925G>T
CLNSRC Baylor College of Medicine
CLNACC RCV000191138.1,