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rs869025610

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869025610(A;A)
Make rs869025610(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome10
Position47607
GeneTUBB8
is asnp
is mentioned by
dbSNPrs869025610
ebirs869025610
HLIrs869025610
Exacrs869025610
Varsomers869025610
Maprs869025610
PheGenIrs869025610
hapmaprs869025610
1000 genomesrs869025610
hgdprs869025610
ensemblrs869025610
gopubmedrs869025610
geneviewrs869025610
scholarrs869025610
googlers869025610
pharmgkbrs869025610
gwascentralrs869025610
openSNPrs869025610
23andMers869025610
23andMe allrs869025610
SNP Nexus

SNPshotrs869025610
SNPdbers869025610
MSV3drs869025610
GWAS Ctlgrs869025610
Max Magnitude0
also known as c.785G>A, p.Arg262Gln and R262Q

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

ClinVar
Risk rs869025610(A;A)
Alt rs869025610(A;A)
Reference rs869025610(G;G)
Significance Pathogenic
Disease Oocyte maturation defect 2
Variation info
Gene TUBB8
CLNDBN Oocyte maturation defect 2
Reversed 1
HGVS NC_000010.10:g.93547C>T
CLNSRC
CLNACC RCV000208767.1,