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rs864321717

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs864321717(C;T)
Make rs864321717(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position89935589
GeneTUBB3
is asnp
is mentioned by
dbSNPrs864321717
ebirs864321717
HLIrs864321717
Exacrs864321717
Varsomers864321717
Maprs864321717
PheGenIrs864321717
hapmaprs864321717
1000 genomesrs864321717
hgdprs864321717
ensemblrs864321717
gopubmedrs864321717
geneviewrs864321717
scholarrs864321717
googlers864321717
pharmgkbrs864321717
gwascentralrs864321717
openSNPrs864321717
23andMers864321717
23andMe allrs864321717
SNP Nexus

SNPshotrs864321717
SNPdbers864321717
MSV3drs864321717
GWAS Ctlgrs864321717
Max Magnitude0
ClinVar
Risk rs864321717(T;T)
Alt rs864321717(T;T)
Reference rs864321717(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.90001997C>T
CLNSRC
CLNACC RCV000203611.1,