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rs869025271

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs869025271(C;C)
Make rs869025271(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome10
Position47706
GeneTUBB8
is asnp
is mentioned by
dbSNPrs869025271
ebirs869025271
HLIrs869025271
Exacrs869025271
Varsomers869025271
Maprs869025271
PheGenIrs869025271
hapmaprs869025271
1000 genomesrs869025271
hgdprs869025271
ensemblrs869025271
gopubmedrs869025271
geneviewrs869025271
scholarrs869025271
googlers869025271
pharmgkbrs869025271
gwascentralrs869025271
openSNPrs869025271
23andMers869025271
23andMe allrs869025271
SNP Nexus

SNPshotrs869025271
SNPdbers869025271
MSV3drs869025271
GWAS Ctlgrs869025271
Max Magnitude0
also known as c.686T>C

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

ClinVar
Risk rs869025271(C;C)
Alt rs869025271(C;C)
Reference rs869025271(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.93646A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000207100.1,