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rs267607164

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267607164(A;A)
Make rs267607164(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position89935700
GeneTUBB3
is asnp
is mentioned by
dbSNPrs267607164
ebirs267607164
HLIrs267607164
Exacrs267607164
Varsomers267607164
Maprs267607164
PheGenIrs267607164
hapmaprs267607164
1000 genomesrs267607164
hgdprs267607164
ensemblrs267607164
gopubmedrs267607164
geneviewrs267607164
scholarrs267607164
googlers267607164
pharmgkbrs267607164
gwascentralrs267607164
openSNPrs267607164
23andMers267607164
23andMe allrs267607164
SNP Nexus

SNPshotrs267607164
SNPdbers267607164
MSV3drs267607164
GWAS Ctlgrs267607164
Max Magnitude0
ClinVar
Risk rs267607164(A,C;A,C)
Alt rs267607164(A,C;A,C)
Reference rs267607164(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.90002108G>A; NC_000016.9:g.90002108G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000007381.2, RCV000007380.2,