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rs267607165

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267607165(A;A)
Make rs267607165(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position89935679
GeneTUBB3
is asnp
is mentioned by
dbSNPrs267607165
ebirs267607165
HLIrs267607165
Exacrs267607165
Varsomers267607165
Maprs267607165
PheGenIrs267607165
hapmaprs267607165
1000 genomesrs267607165
hgdprs267607165
ensemblrs267607165
gopubmedrs267607165
geneviewrs267607165
scholarrs267607165
googlers267607165
pharmgkbrs267607165
gwascentralrs267607165
openSNPrs267607165
23andMers267607165
23andMe allrs267607165
SNP Nexus

SNPshotrs267607165
SNPdbers267607165
MSV3drs267607165
GWAS Ctlgrs267607165
Max Magnitude0
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
CLNACC RCV000007382.2, RCV000194090.1,