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rs869025612

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869025612(A;A)
Make rs869025612(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome10
Position47492
GeneTUBB8
is asnp
is mentioned by
dbSNPrs869025612
ebirs869025612
HLIrs869025612
Exacrs869025612
Varsomers869025612
Maprs869025612
PheGenIrs869025612
hapmaprs869025612
1000 genomesrs869025612
hgdprs869025612
ensemblrs869025612
gopubmedrs869025612
geneviewrs869025612
scholarrs869025612
googlers869025612
pharmgkbrs869025612
gwascentralrs869025612
openSNPrs869025612
23andMers869025612
23andMe allrs869025612
SNP Nexus

SNPshotrs869025612
SNPdbers869025612
MSV3drs869025612
GWAS Ctlgrs869025612
Max Magnitude0
also known as c.900G>A, p.Met300Ile and M300I

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

ClinVar
Risk rs869025612(A;A)
Alt rs869025612(A;A)
Reference rs869025612(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.93432C>T
CLNSRC
CLNACC RCV000208765.1,