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rs137853044

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853044(A;A)
Make rs137853044(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position49185161
GeneTUBA1A
is asnp
is mentioned by
dbSNPrs137853044
ebirs137853044
HLIrs137853044
Exacrs137853044
Varsomers137853044
Maprs137853044
PheGenIrs137853044
hapmaprs137853044
1000 genomesrs137853044
hgdprs137853044
ensemblrs137853044
gopubmedrs137853044
geneviewrs137853044
scholarrs137853044
googlers137853044
pharmgkbrs137853044
gwascentralrs137853044
openSNPrs137853044
23andMers137853044
23andMe allrs137853044
SNP Nexus

SNPshotrs137853044
SNPdbers137853044
MSV3drs137853044
GWAS Ctlgrs137853044
Max Magnitude0
OMIM602529
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137853044(A,T;A,T)
Alt rs137853044(A,T;A,T)
Reference rs137853044(G;G)
Significance Pathogenic
Disease Lissencephaly 3
Variation info
Gene TUBA1A
CLNDBN Lissencephaly 3
Reversed 1
HGVS NC_000012.11:g.49578944C>A; NC_000012.11:g.49578944C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000147799.1, RCV000007487.4,