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rs137853049

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853049(C;T)
Make rs137853049(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position49185102
GeneTUBA1A
is asnp
is mentioned by
dbSNPrs137853049
ebirs137853049
HLIrs137853049
Exacrs137853049
Varsomers137853049
Maprs137853049
PheGenIrs137853049
hapmaprs137853049
1000 genomesrs137853049
hgdprs137853049
ensemblrs137853049
gopubmedrs137853049
geneviewrs137853049
scholarrs137853049
googlers137853049
pharmgkbrs137853049
gwascentralrs137853049
openSNPrs137853049
23andMers137853049
23andMe allrs137853049
SNP Nexus

SNPshotrs137853049
SNPdbers137853049
MSV3drs137853049
GWAS Ctlgrs137853049
Max Magnitude0
OMIM602529
Desc
Variant0007
Relatedalso
ClinVar
Risk rs137853049(T;T)
Alt rs137853049(T;T)
Reference rs137853049(C;C)
Significance Pathogenic
Disease Lissencephaly 3
Variation info
Gene TUBA1A
CLNDBN Lissencephaly 3
Reversed 1
HGVS NC_000012.11:g.49578885G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007492.2,