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rs193922922

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922922(G;T)
Make rs193922922(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position29798644
GeneKIF22
is asnp
is mentioned by
dbSNPrs193922922
ebirs193922922
HLIrs193922922
Exacrs193922922
Varsomers193922922
Maprs193922922
PheGenIrs193922922
hapmaprs193922922
1000 genomesrs193922922
hgdprs193922922
ensemblrs193922922
gopubmedrs193922922
geneviewrs193922922
scholarrs193922922
googlers193922922
pharmgkbrs193922922
gwascentralrs193922922
openSNPrs193922922
23andMers193922922
23andMe allrs193922922
SNP Nexus

SNPshotrs193922922
SNPdbers193922922
MSV3drs193922922
GWAS Ctlgrs193922922
Max Magnitude0
ClinVar
Risk rs193922922(A,T;A,T)
Alt rs193922922(A,T;A,T)
Reference rs193922922(G;G)
Significance Pathogenic
Disease Spondyloepimetaphyseal dysplasia with multiple dislocations
Variation info
Gene KIF22
CLNDBN Spondyloepimetaphyseal dysplasia with multiple dislocations
Reversed 0
HGVS NC_000016.9:g.29809965G>A; NC_000016.9:g.29809965G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023270.2, RCV000023271.2,