rs869025610

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs869025610(A;A)

Make rs869025610(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

10

Position

47607

Gene

TUBB8

is a	snp
is	mentioned by
dbSNP	rs869025610
dbSNP (classic)	rs869025610
ClinGen	rs869025610
ebi	rs869025610
HLI	rs869025610
Exac	rs869025610
Gnomad	rs869025610
Varsome	rs869025610
LitVar	rs869025610
Map	rs869025610
PheGenI	rs869025610
Biobank	rs869025610
1000 genomes	rs869025610
hgdp	rs869025610
ensembl	rs869025610
geneview	rs869025610
scholar	rs869025610
google	rs869025610
pharmgkb	rs869025610
gwascentral	rs869025610
openSNP	rs869025610
23andMe	rs869025610
SNPshot	rs869025610
SNPdbe	rs869025610
MSV3d	rs869025610
GWAS Ctlg	rs869025610

Max Magnitude

0

also known as c.785G>A, p.Arg262Gln and R262Q

[PMID 26789871] Mutations in TUBB8 and Human Oocyte Meiotic Arrest

ClinVar
Risk	rs869025610(A;A)
Alt	rs869025610(A;A)
Reference	Rs869025610(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.93547C>T
CLNSRC
CLNACC	RCV000208767.1,