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rs137853047

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853047(C;T)
Make rs137853047(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position49185110
GeneTUBA1A
is asnp
is mentioned by
dbSNPrs137853047
ebirs137853047
HLIrs137853047
Exacrs137853047
Varsomers137853047
Maprs137853047
PheGenIrs137853047
hapmaprs137853047
1000 genomesrs137853047
hgdprs137853047
ensemblrs137853047
gopubmedrs137853047
geneviewrs137853047
scholarrs137853047
googlers137853047
pharmgkbrs137853047
gwascentralrs137853047
openSNPrs137853047
23andMers137853047
23andMe allrs137853047
SNP Nexus

SNPshotrs137853047
SNPdbers137853047
MSV3drs137853047
GWAS Ctlgrs137853047
Max Magnitude0
OMIM602529
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137853047(T;T)
Alt rs137853047(T;T)
Reference rs137853047(C;C)
Significance Pathogenic
Disease Lissencephaly 3
Variation info
Gene TUBA1A
CLNDBN Lissencephaly 3
Reversed 1
HGVS NC_000012.11:g.49578893G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007490.2,