Have questions? Visit https://www.reddit.com/r/SNPedia

rs137853043

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853043(C;T)
Make rs137853043(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position49185576
GeneTUBA1A
is asnp
is mentioned by
dbSNPrs137853043
ebirs137853043
HLIrs137853043
Exacrs137853043
Varsomers137853043
Maprs137853043
PheGenIrs137853043
hapmaprs137853043
1000 genomesrs137853043
hgdprs137853043
ensemblrs137853043
gopubmedrs137853043
geneviewrs137853043
scholarrs137853043
googlers137853043
pharmgkbrs137853043
gwascentralrs137853043
openSNPrs137853043
23andMers137853043
23andMe allrs137853043
SNP Nexus

SNPshotrs137853043
SNPdbers137853043
MSV3drs137853043
GWAS Ctlgrs137853043
Max Magnitude0
OMIM602529
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137853043(T;T)
Alt rs137853043(T;T)
Reference rs137853043(C;C)
Significance Pathogenic
Disease Lissencephaly 3
Variation info
Gene TUBA1A
CLNDBN Lissencephaly 3
Reversed 1
HGVS NC_000012.11:g.49579359G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007486.4,