rs869025609

Orientation

minus

Stabilized

minus

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

Make rs869025609(C;T)

Make rs869025609(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

10

Position

47865

Gene

TUBB8

is a	snp
is	mentioned by
dbSNP	rs869025609
dbSNP (classic)	rs869025609
ClinGen	rs869025609
ebi	rs869025609
HLI	rs869025609
Exac	rs869025609
Gnomad	rs869025609
Varsome	rs869025609
LitVar	rs869025609
Map	rs869025609
PheGenI	rs869025609
Biobank	rs869025609
1000 genomes	rs869025609
hgdp	rs869025609
ensembl	rs869025609
geneview	rs869025609
scholar	rs869025609
google	rs869025609
pharmgkb	rs869025609
gwascentral	rs869025609
openSNP	rs869025609
23andMe	rs869025609
SNPshot	rs869025609
SNPdbe	rs869025609
MSV3d	rs869025609
GWAS Ctlg	rs869025609

Max Magnitude

0

also known as c.527C>T, p.Ser176Leu ans S176L

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

ClinVar
Risk	rs869025609(T;T)
Alt	rs869025609(T;T)
Reference	Rs869025609(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.93805G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000208753.2,