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rs121912589

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121912589(A;G)
Make rs121912589(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position39332608
GeneKIF21A
is asnp
is mentioned by
dbSNPrs121912589
ebirs121912589
HLIrs121912589
Exacrs121912589
Varsomers121912589
Maprs121912589
PheGenIrs121912589
hapmaprs121912589
1000 genomesrs121912589
hgdprs121912589
ensemblrs121912589
gopubmedrs121912589
geneviewrs121912589
scholarrs121912589
googlers121912589
pharmgkbrs121912589
gwascentralrs121912589
openSNPrs121912589
23andMers121912589
23andMe allrs121912589
SNP Nexus

SNPshotrs121912589
SNPdbers121912589
MSV3drs121912589
GWAS Ctlgrs121912589
Max Magnitude0
OMIM608283
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121912589(G;G)
Alt rs121912589(G;G)
Reference rs121912589(A;A)
Significance Pathogenic
Disease Fibrosis of extraocular muscles
Variation info
Gene KIF21A
CLNDBN Fibrosis of extraocular muscles, congenital, 1
Reversed 1
HGVS NC_000012.11:g.39726410T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002544.2,