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rs1057520306

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057520306(C;T)
Make rs1057520306(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position47679
GeneTUBB8
is asnp
is mentioned by
dbSNPrs1057520306
dbSNP (old)rs1057520306
ClinGenrs1057520306
ebirs1057520306
HLIrs1057520306
Exacrs1057520306
Gnomadrs1057520306
Varsomers1057520306
LitVarrs1057520306
Maprs1057520306
PheGenIrs1057520306
Biobankrs1057520306
1000 genomesrs1057520306
hgdprs1057520306
ensemblrs1057520306
gopubmedrs1057520306
geneviewrs1057520306
scholarrs1057520306
googlers1057520306
pharmgkbrs1057520306
gwascentralrs1057520306
openSNPrs1057520306
23andMers1057520306
23andMe allrs1057520306
SNPshotrs1057520306
SNPdbers1057520306
MSV3drs1057520306
GWAS Ctlgrs1057520306
Max Magnitude0
ClinVar
Risk rs1057520306(T;T)
Alt rs1057520306(T;T)
Reference Rs1057520306(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.93619G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000439790.1,