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rs137853048

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137853048(C;C)
Make rs137853048(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position49185176
GeneTUBA1A
is asnp
is mentioned by
dbSNPrs137853048
ebirs137853048
HLIrs137853048
Exacrs137853048
Varsomers137853048
Maprs137853048
PheGenIrs137853048
hapmaprs137853048
1000 genomesrs137853048
hgdprs137853048
ensemblrs137853048
gopubmedrs137853048
geneviewrs137853048
scholarrs137853048
googlers137853048
pharmgkbrs137853048
gwascentralrs137853048
openSNPrs137853048
23andMers137853048
23andMe allrs137853048
SNP Nexus

SNPshotrs137853048
SNPdbers137853048
MSV3drs137853048
GWAS Ctlgrs137853048
Max Magnitude0
OMIM602529
Desc
Variant0006
Relatedalso
ClinVar
Risk rs137853048(C;C)
Alt rs137853048(C;C)
Reference rs137853048(T;T)
Significance Pathogenic
Disease Lissencephaly 3
Variation info
Gene TUBA1A
CLNDBN Lissencephaly 3
Reversed 1
HGVS NC_000012.11:g.49578959A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000007491.2,