rs869025612

Orientation

minus

Stabilized

minus

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

Make rs869025612(A;A)

Make rs869025612(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

10

Position

47492

Gene

TUBB8

is a	snp
is	mentioned by
dbSNP	rs869025612
dbSNP (classic)	rs869025612
ClinGen	rs869025612
ebi	rs869025612
HLI	rs869025612
Exac	rs869025612
Gnomad	rs869025612
Varsome	rs869025612
LitVar	rs869025612
Map	rs869025612
PheGenI	rs869025612
Biobank	rs869025612
1000 genomes	rs869025612
hgdp	rs869025612
ensembl	rs869025612
geneview	rs869025612
scholar	rs869025612
google	rs869025612
pharmgkb	rs869025612
gwascentral	rs869025612
openSNP	rs869025612
23andMe	rs869025612
SNPshot	rs869025612
SNPdbe	rs869025612
MSV3d	rs869025612
GWAS Ctlg	rs869025612

Max Magnitude

0

also known as c.900G>A, p.Met300Ile and M300I

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

ClinVar
Risk	rs869025612(A;A)
Alt	rs869025612(A;A)
Reference	Rs869025612(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.93432C>T
CLNSRC
CLNACC	RCV000208765.1,