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rs267607162

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267607162(C;T)
Make rs267607162(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position89935235
GeneTUBB3
is asnp
is mentioned by
dbSNPrs267607162
ebirs267607162
HLIrs267607162
Exacrs267607162
Varsomers267607162
Maprs267607162
PheGenIrs267607162
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1000 genomesrs267607162
hgdprs267607162
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openSNPrs267607162
23andMers267607162
23andMe allrs267607162
SNP Nexus

SNPshotrs267607162
SNPdbers267607162
MSV3drs267607162
GWAS Ctlgrs267607162
Max Magnitude0
ClinVar
Risk rs267607162(T;T)
Alt rs267607162(T;T)
Reference rs267607162(C;C)
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.90001643C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007378.2,