rs267607165

Orientation

plus

Stabilized

plus

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

Make rs267607165(A;A)

Make rs267607165(A;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

89935679

Gene

TUBB3

is a	snp
is	mentioned by
dbSNP	rs267607165
dbSNP (classic)	rs267607165
ClinGen	rs267607165
ebi	rs267607165
HLI	rs267607165
Exac	rs267607165
Gnomad	rs267607165
Varsome	rs267607165
LitVar	rs267607165
Map	rs267607165
PheGenI	rs267607165
Biobank	rs267607165
1000 genomes	rs267607165
hgdp	rs267607165
ensembl	rs267607165
geneview	rs267607165
scholar	rs267607165
google	rs267607165
pharmgkb	rs267607165
gwascentral	rs267607165
openSNP	rs267607165
23andMe	rs267607165
SNPshot	rs267607165
SNPdbe	rs267607165
MSV3d	rs267607165
GWAS Ctlg	rs267607165

Max Magnitude

0

ClinVar
Risk	rs267607165(A;A)
Alt	rs267607165(A;A)
Reference	Rs267607165(G;G)
Significance	Pathogenic
Disease	Fibrosis of extraocular muscles Cortical dysplasia
Variation	info
Gene	TUBB3
CLNDBN	Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement Cortical dysplasia, complex, with other brain malformations 1
Reversed	0
HGVS	NC_000016.9:g.90002087G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007382.4, RCV000194090.1,