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rs267607163

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267607163(A;A)
Make rs267607163(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position89935355
GeneTUBB3
is asnp
is mentioned by
dbSNPrs267607163
ebirs267607163
HLIrs267607163
Exacrs267607163
Varsomers267607163
Maprs267607163
PheGenIrs267607163
hapmaprs267607163
1000 genomesrs267607163
hgdprs267607163
ensemblrs267607163
gopubmedrs267607163
geneviewrs267607163
scholarrs267607163
googlers267607163
pharmgkbrs267607163
gwascentralrs267607163
openSNPrs267607163
23andMers267607163
23andMe allrs267607163
SNP Nexus

SNPshotrs267607163
SNPdbers267607163
MSV3drs267607163
GWAS Ctlgrs267607163
Max Magnitude0
ClinVar
Risk rs267607163(A;A)
Alt rs267607163(A;A)
Reference rs267607163(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.90001763G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007379.2,