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rs864321715

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs864321715(A;A)
Make rs864321715(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position89933512
GeneTUBB3
is asnp
is mentioned by
dbSNPrs864321715
ebirs864321715
HLIrs864321715
Exacrs864321715
Varsomers864321715
Maprs864321715
PheGenIrs864321715
hapmaprs864321715
1000 genomesrs864321715
hgdprs864321715
ensemblrs864321715
gopubmedrs864321715
geneviewrs864321715
scholarrs864321715
googlers864321715
pharmgkbrs864321715
gwascentralrs864321715
openSNPrs864321715
23andMers864321715
23andMe allrs864321715
SNP Nexus

SNPshotrs864321715
SNPdbers864321715
MSV3drs864321715
GWAS Ctlgrs864321715
Max Magnitude0
ClinVar
Risk rs864321715(A;A)
Alt rs864321715(A;A)
Reference rs864321715(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.89999920G>A
CLNSRC
CLNACC RCV000203606.1,