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rs137853050

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853050(A;A)
Make rs137853050(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position49185101
GeneTUBA1A
is asnp
is mentioned by
dbSNPrs137853050
ebirs137853050
HLIrs137853050
Exacrs137853050
Varsomers137853050
Maprs137853050
PheGenIrs137853050
hapmaprs137853050
1000 genomesrs137853050
hgdprs137853050
ensemblrs137853050
gopubmedrs137853050
geneviewrs137853050
scholarrs137853050
googlers137853050
pharmgkbrs137853050
gwascentralrs137853050
openSNPrs137853050
23andMers137853050
23andMe allrs137853050
SNP Nexus

SNPshotrs137853050
SNPdbers137853050
MSV3drs137853050
GWAS Ctlgrs137853050
Max Magnitude0
OMIM602529
Desc
Variant0008
Relatedalso
ClinVar
Risk rs137853050(A;A)
Alt rs137853050(A;A)
Reference rs137853050(G;G)
Significance Pathogenic
Disease Lissencephaly 3
Variation info
Gene TUBA1A
CLNDBN Lissencephaly 3
Reversed 1
HGVS NC_000012.11:g.49578884C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007493.4,