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rs869025609

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869025609(C;T)
Make rs869025609(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome10
Position47865
GeneTUBB8
is asnp
is mentioned by
dbSNPrs869025609
ClinGenrs869025609
ebirs869025609
HLIrs869025609
Exacrs869025609
Varsomers869025609
Maprs869025609
PheGenIrs869025609
hapmaprs869025609
1000 genomesrs869025609
hgdprs869025609
ensemblrs869025609
gopubmedrs869025609
geneviewrs869025609
scholarrs869025609
googlers869025609
pharmgkbrs869025609
gwascentralrs869025609
openSNPrs869025609
23andMers869025609
23andMe allrs869025609
SNP Nexus

SNPshotrs869025609
SNPdbers869025609
MSV3drs869025609
GWAS Ctlgrs869025609
Max Magnitude0
also known as c.527C>T, p.Ser176Leu ans S176L

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

ClinVar
Risk rs869025609(T;T)
Alt rs869025609(T;T)
Reference Rs869025609(C;C)
Significance Pathogenic
Disease Oocyte maturation defect 2
Variation info
Gene TUBB8
CLNDBN Oocyte maturation defect 2
Reversed 1
HGVS NC_000010.10:g.93805G>A
CLNSRC
CLNACC RCV000208753.1,