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rs782246853

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs782246853(-;C)
Make rs782246853(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position47965
GeneTUBB8
is asnp
is mentioned by
dbSNPrs782246853
dbSNP (classic)rs782246853
ClinGenrs782246853
ebirs782246853
HLIrs782246853
Exacrs782246853
Gnomadrs782246853
Varsomers782246853
LitVarrs782246853
Maprs782246853
PheGenIrs782246853
Biobankrs782246853
1000 genomesrs782246853
hgdprs782246853
ensemblrs782246853
geneviewrs782246853
scholarrs782246853
googlers782246853
pharmgkbrs782246853
gwascentralrs782246853
openSNPrs782246853
23andMers782246853
SNPshotrs782246853
SNPdbers782246853
MSV3drs782246853
GWAS Ctlgrs782246853
Max Magnitude0
ClinVar
Risk rs782246853(C;C)
Alt rs782246853(C;C)
Reference Rs782246853(-;-)
Significance Pathogenic
Disease Oocyte maturation defect 2
Variation info
Gene TUBB8
CLNDBN Oocyte maturation defect 2
Reversed 0
HGVS NC_000010.10:g.93906dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000428882.1,