Have questions? Visit https://www.reddit.com/r/SNPedia

rs121912585

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912585(C;T)
Make rs121912585(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position39332405
GeneKIF21A
is asnp
is mentioned by
dbSNPrs121912585
ebirs121912585
HLIrs121912585
Exacrs121912585
Varsomers121912585
Maprs121912585
PheGenIrs121912585
hapmaprs121912585
1000 genomesrs121912585
hgdprs121912585
ensemblrs121912585
gopubmedrs121912585
geneviewrs121912585
scholarrs121912585
googlers121912585
pharmgkbrs121912585
gwascentralrs121912585
openSNPrs121912585
23andMers121912585
23andMe allrs121912585
SNP Nexus

SNPshotrs121912585
SNPdbers121912585
MSV3drs121912585
GWAS Ctlgrs121912585
Max Magnitude0
OMIM608283
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121912585(T;T)
Alt rs121912585(T;T)
Reference rs121912585(C;C)
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.39726207G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002538.2, RCV000002539.2,