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rs869025611

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs869025611(C;C)
Make rs869025611(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome10
Position47304
GeneTUBB8
is asnp
is mentioned by
dbSNPrs869025611
ebirs869025611
HLIrs869025611
Exacrs869025611
Varsomers869025611
Maprs869025611
PheGenIrs869025611
hapmaprs869025611
1000 genomesrs869025611
hgdprs869025611
ensemblrs869025611
gopubmedrs869025611
geneviewrs869025611
scholarrs869025611
googlers869025611
pharmgkbrs869025611
gwascentralrs869025611
openSNPrs869025611
23andMers869025611
23andMe allrs869025611
SNP Nexus

SNPshotrs869025611
SNPdbers869025611
MSV3drs869025611
GWAS Ctlgrs869025611
Max Magnitude0
also known as c.1088T>C, p.Met363Thr and M363T

[PMID 26789871OA-icon.png] Mutations in TUBB8 and Human Oocyte Meiotic Arrest

ClinVar
Risk rs869025611(C;C)
Alt rs869025611(C;C)
Reference rs869025611(T;T)
Significance Pathogenic
Disease Oocyte maturation defect 2
Variation info
Gene TUBB8
CLNDBN Oocyte maturation defect 2
Reversed 1
HGVS NC_000010.10:g.93244A>G
CLNSRC
CLNACC RCV000208778.1,