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rs137853045

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137853045(A;C)
Make rs137853045(C;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position49185804
GeneTUBA1A
is asnp
is mentioned by
dbSNPrs137853045
ebirs137853045
HLIrs137853045
Exacrs137853045
Varsomers137853045
Maprs137853045
PheGenIrs137853045
hapmaprs137853045
1000 genomesrs137853045
hgdprs137853045
ensemblrs137853045
gopubmedrs137853045
geneviewrs137853045
scholarrs137853045
googlers137853045
pharmgkbrs137853045
gwascentralrs137853045
openSNPrs137853045
23andMers137853045
23andMe allrs137853045
SNP Nexus

SNPshotrs137853045
SNPdbers137853045
MSV3drs137853045
GWAS Ctlgrs137853045
Max Magnitude0
OMIM602529
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137853045(C;C)
Alt rs137853045(C;C)
Reference rs137853045(A;A)
Significance Pathogenic
Disease Lissencephaly 3
Variation info
Gene TUBA1A
CLNDBN Lissencephaly 3
Reversed 1
HGVS NC_000012.11:g.49579587T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000007488.2,