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rs137853046

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853046(A;A)
Make rs137853046(A;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position49185579
GeneTUBA1A
is asnp
is mentioned by
dbSNPrs137853046
ebirs137853046
HLIrs137853046
Exacrs137853046
Varsomers137853046
Maprs137853046
PheGenIrs137853046
hapmaprs137853046
1000 genomesrs137853046
hgdprs137853046
ensemblrs137853046
gopubmedrs137853046
geneviewrs137853046
scholarrs137853046
googlers137853046
pharmgkbrs137853046
gwascentralrs137853046
openSNPrs137853046
23andMers137853046
23andMe allrs137853046
SNP Nexus

SNPshotrs137853046
SNPdbers137853046
MSV3drs137853046
GWAS Ctlgrs137853046
Max Magnitude0
OMIM602529
Desc
Variant0004
Relatedalso
ClinVar
Risk rs137853046(A;A)
Alt rs137853046(A;A)
Reference rs137853046(C;C)
Significance Pathogenic
Disease Lissencephaly 3
Variation info
Gene TUBA1A
CLNDBN Lissencephaly 3
Reversed 1
HGVS NC_000012.11:g.49579362G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007489.2,