rs869025273

Orientation

minus

Stabilized

minus

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

Make rs869025273(A;A)

Make rs869025273(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

10

Position

49234

Gene

TUBB8

is a	snp
is	mentioned by
dbSNP	rs869025273
dbSNP (classic)	rs869025273
ClinGen	rs869025273
ebi	rs869025273
HLI	rs869025273
Exac	rs869025273
Gnomad	rs869025273
Varsome	rs869025273
LitVar	rs869025273
Map	rs869025273
PheGenI	rs869025273
Biobank	rs869025273
1000 genomes	rs869025273
hgdp	rs869025273
ensembl	rs869025273
geneview	rs869025273
scholar	rs869025273
google	rs869025273
pharmgkb	rs869025273
gwascentral	rs869025273
openSNP	rs869025273
23andMe	rs869025273
SNPshot	rs869025273
SNPdbe	rs869025273
MSV3d	rs869025273
GWAS Ctlg	rs869025273

Max Magnitude

0

also known as c.5G>A, p.Arg2Lys and R2K

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

ClinVar
Risk	rs869025273(A;A)
Alt	rs869025273(A;A)
Reference	Rs869025273(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.95174C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000207037.3,