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rs797046071

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797046071(A;A)
Make rs797046071(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position49185261
GeneTUBA1A
is asnp
is mentioned by
dbSNPrs797046071
dbSNP (classic)rs797046071
ClinGenrs797046071
ebirs797046071
HLIrs797046071
Exacrs797046071
Gnomadrs797046071
Varsomers797046071
LitVarrs797046071
Maprs797046071
PheGenIrs797046071
Biobankrs797046071
1000 genomesrs797046071
hgdprs797046071
ensemblrs797046071
geneviewrs797046071
scholarrs797046071
googlers797046071
pharmgkbrs797046071
gwascentralrs797046071
openSNPrs797046071
23andMers797046071
SNPshotrs797046071
SNPdbers797046071
MSV3drs797046071
GWAS Ctlgrs797046071
Max Magnitude0
ClinVar
Risk rs797046071(A;A)
Alt rs797046071(A;A)
Reference Rs797046071(G;G)
Significance Probable-Pathogenic
Disease Lissencephaly 3
Variation info
Gene TUBA1A
CLNDBN Lissencephaly 3
Reversed 1
HGVS NC_000012.11:g.49579044C>T
CLNSRC
CLNACC RCV000194532.1,