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rs121912586

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912586(A;A)
Make rs121912586(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position39332404
GeneKIF21A
is asnp
is mentioned by
dbSNPrs121912586
ebirs121912586
HLIrs121912586
Exacrs121912586
Varsomers121912586
Maprs121912586
PheGenIrs121912586
hapmaprs121912586
1000 genomesrs121912586
hgdprs121912586
ensemblrs121912586
gopubmedrs121912586
geneviewrs121912586
scholarrs121912586
googlers121912586
pharmgkbrs121912586
gwascentralrs121912586
openSNPrs121912586
23andMers121912586
23andMe allrs121912586
SNP Nexus

SNPshotrs121912586
SNPdbers121912586
MSV3drs121912586
GWAS Ctlgrs121912586
Max Magnitude0
OMIM608283
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121912586(A;A)
Alt rs121912586(A;A)
Reference rs121912586(G;G)
Significance Pathogenic
Disease Fibrosis of extraocular muscles Fibrosis of extraocular muscles
Variation info
Gene KIF21A
CLNDBN Fibrosis of extraocular muscles, congenital, 1 Fibrosis of extraocular muscles, congenital, 3b
Reversed 1
HGVS NC_000012.11:g.39726206C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002540.2, RCV000002541.2,