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rs267607200

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267607200(A;A)
Make rs267607200(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position39332606
GeneKIF21A
is asnp
is mentioned by
dbSNPrs267607200
ebirs267607200
HLIrs267607200
Exacrs267607200
Varsomers267607200
Maprs267607200
PheGenIrs267607200
hapmaprs267607200
1000 genomesrs267607200
hgdprs267607200
ensemblrs267607200
gopubmedrs267607200
geneviewrs267607200
scholarrs267607200
googlers267607200
pharmgkbrs267607200
gwascentralrs267607200
openSNPrs267607200
23andMers267607200
23andMe allrs267607200
SNP Nexus

SNPshotrs267607200
SNPdbers267607200
MSV3drs267607200
GWAS Ctlgrs267607200
Max Magnitude0
ClinVar
Risk rs267607200(A;A)
Alt rs267607200(A;A)
Reference rs267607200(G;G)
Significance Pathogenic
Disease Fibrosis of extraocular muscles
Variation info
Gene KIF21A
CLNDBN Fibrosis of extraocular muscles, congenital, 3b
Reversed 1
HGVS NC_000012.11:g.39726408C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002546.2,