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rs864321716

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs864321716(A;A)
Make rs864321716(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position89935236
GeneTUBB3
is asnp
is mentioned by
dbSNPrs864321716
ebirs864321716
HLIrs864321716
Exacrs864321716
Varsomers864321716
Maprs864321716
PheGenIrs864321716
hapmaprs864321716
1000 genomesrs864321716
hgdprs864321716
ensemblrs864321716
gopubmedrs864321716
geneviewrs864321716
scholarrs864321716
googlers864321716
pharmgkbrs864321716
gwascentralrs864321716
openSNPrs864321716
23andMers864321716
23andMe allrs864321716
SNP Nexus

SNPshotrs864321716
SNPdbers864321716
MSV3drs864321716
GWAS Ctlgrs864321716
Max Magnitude0
ClinVar
Risk rs864321716(A;A)
Alt rs864321716(A;A)
Reference rs864321716(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.90001644G>A
CLNSRC
CLNACC RCV000203607.1,