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rs121912587

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121912587(C;C)
Make rs121912587(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position39332236
GeneKIF21A
is asnp
is mentioned by
dbSNPrs121912587
ebirs121912587
HLIrs121912587
Exacrs121912587
Varsomers121912587
Maprs121912587
PheGenIrs121912587
hapmaprs121912587
1000 genomesrs121912587
hgdprs121912587
ensemblrs121912587
gopubmedrs121912587
geneviewrs121912587
scholarrs121912587
googlers121912587
pharmgkbrs121912587
gwascentralrs121912587
openSNPrs121912587
23andMers121912587
23andMe allrs121912587
SNP Nexus

SNPshotrs121912587
SNPdbers121912587
MSV3drs121912587
GWAS Ctlgrs121912587
Max Magnitude0
OMIM608283
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121912587(C;C)
Alt rs121912587(C;C)
Reference rs121912587(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.39726038A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002542.2,