rs864321714

Orientation

plus

Stabilized

plus

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

Make rs864321714(A;A)

Make rs864321714(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

16

Position

89933486

Gene

TUBB3

is a	snp
is	mentioned by
dbSNP	rs864321714
dbSNP (classic)	rs864321714
ClinGen	rs864321714
ebi	rs864321714
HLI	rs864321714
Exac	rs864321714
Gnomad	rs864321714
Varsome	rs864321714
LitVar	rs864321714
Map	rs864321714
PheGenI	rs864321714
Biobank	rs864321714
1000 genomes	rs864321714
hgdp	rs864321714
ensembl	rs864321714
geneview	rs864321714
scholar	rs864321714
google	rs864321714
pharmgkb	rs864321714
gwascentral	rs864321714
openSNP	rs864321714
23andMe	rs864321714
SNPshot	rs864321714
SNPdbe	rs864321714
MSV3d	rs864321714
GWAS Ctlg	rs864321714

Max Magnitude

0

ClinVar
Risk	rs864321714(A;A)
Alt	rs864321714(A;A)
Reference	Rs864321714(G;G)
Significance	Pathogenic
Disease	Fibrosis of extraocular muscles
Variation	info
Gene	TUBB3
CLNDBN	Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement
Reversed	0
HGVS	NC_000016.9:g.89999894G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000203610.1,