rs869025611

Orientation

minus

Stabilized

minus

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

Make rs869025611(C;C)

Make rs869025611(C;T)

Reference

GRCh38.p2 38.2/147

Chromosome

10

Position

47304

Gene

TUBB8

is a	snp
is	mentioned by
dbSNP	rs869025611
dbSNP (classic)	rs869025611
ClinGen	rs869025611
ebi	rs869025611
HLI	rs869025611
Exac	rs869025611
Gnomad	rs869025611
Varsome	rs869025611
LitVar	rs869025611
Map	rs869025611
PheGenI	rs869025611
Biobank	rs869025611
1000 genomes	rs869025611
hgdp	rs869025611
ensembl	rs869025611
geneview	rs869025611
scholar	rs869025611
google	rs869025611
pharmgkb	rs869025611
gwascentral	rs869025611
openSNP	rs869025611
23andMe	rs869025611
SNPshot	rs869025611
SNPdbe	rs869025611
MSV3d	rs869025611
GWAS Ctlg	rs869025611

Max Magnitude

0

also known as c.1088T>C, p.Met363Thr and M363T

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

ClinVar
Risk	rs869025611(C;C)
Alt	rs869025611(C;C)
Reference	Rs869025611(T;T)
Significance	Pathogenic
Disease	Oocyte maturation defect 2
Variation	info
Gene	TUBB8
CLNDBN	Oocyte maturation defect 2
Reversed	1
HGVS	NC_000010.10:g.93244A>G
CLNSRC
CLNACC	RCV000208778.1,