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rs193922920

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922920(C;T)
Make rs193922920(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position29798640
GeneKIF22
is asnp
is mentioned by
dbSNPrs193922920
ebirs193922920
HLIrs193922920
Exacrs193922920
Varsomers193922920
Maprs193922920
PheGenIrs193922920
hapmaprs193922920
1000 genomesrs193922920
hgdprs193922920
ensemblrs193922920
gopubmedrs193922920
geneviewrs193922920
scholarrs193922920
googlers193922920
pharmgkbrs193922920
gwascentralrs193922920
openSNPrs193922920
23andMers193922920
23andMe allrs193922920
SNP Nexus

SNPshotrs193922920
SNPdbers193922920
MSV3drs193922920
GWAS Ctlgrs193922920
Max Magnitude0
ClinVar
Risk rs193922920(T;T)
Alt rs193922920(T;T)
Reference rs193922920(C;C)
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.29809961C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023268.2,