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rs869025272

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869025272(A;A)
Make rs869025272(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome10
Position47143
GeneLOC105376338, TUBB8
is asnp
is mentioned by
dbSNPrs869025272
ebirs869025272
HLIrs869025272
Exacrs869025272
Varsomers869025272
Maprs869025272
PheGenIrs869025272
hapmaprs869025272
1000 genomesrs869025272
hgdprs869025272
ensemblrs869025272
gopubmedrs869025272
geneviewrs869025272
scholarrs869025272
googlers869025272
pharmgkbrs869025272
gwascentralrs869025272
openSNPrs869025272
23andMers869025272
23andMe allrs869025272
SNP Nexus

SNPshotrs869025272
SNPdbers869025272
MSV3drs869025272
GWAS Ctlgrs869025272
Max Magnitude0
also known as c.1249G>A, p.Asp417Asn and D417N

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

ClinVar
Risk rs869025272(A;A)
Alt rs869025272(A;A)
Reference rs869025272(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.93083C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000207225.2,