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rs121912590

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121912590(G;G)
Make rs121912590(G;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position39332607
GeneKIF21A
is asnp
is mentioned by
dbSNPrs121912590
ebirs121912590
HLIrs121912590
Exacrs121912590
Varsomers121912590
Maprs121912590
PheGenIrs121912590
hapmaprs121912590
1000 genomesrs121912590
hgdprs121912590
ensemblrs121912590
gopubmedrs121912590
geneviewrs121912590
scholarrs121912590
googlers121912590
pharmgkbrs121912590
gwascentralrs121912590
openSNPrs121912590
23andMers121912590
23andMe allrs121912590
SNP Nexus

SNPshotrs121912590
SNPdbers121912590
MSV3drs121912590
GWAS Ctlgrs121912590
Max Magnitude0
OMIM608283
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121912590(G;G)
Alt rs121912590(G;G)
Reference rs121912590(T;T)
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.39726409A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002545.2,