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rs869025273

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869025273(A;A)
Make rs869025273(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome10
Position49234
GeneTUBB8
is asnp
is mentioned by
dbSNPrs869025273
ebirs869025273
HLIrs869025273
Exacrs869025273
Varsomers869025273
Maprs869025273
PheGenIrs869025273
hapmaprs869025273
1000 genomesrs869025273
hgdprs869025273
ensemblrs869025273
gopubmedrs869025273
geneviewrs869025273
scholarrs869025273
googlers869025273
pharmgkbrs869025273
gwascentralrs869025273
openSNPrs869025273
23andMers869025273
23andMe allrs869025273
SNP Nexus

SNPshotrs869025273
SNPdbers869025273
MSV3drs869025273
GWAS Ctlgrs869025273
Max Magnitude0
also known as c.5G>A, p.Arg2Lys and R2K

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

ClinVar
Risk rs869025273(A;A)
Alt rs869025273(A;A)
Reference rs869025273(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.95174C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000207037.2,