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rs193922921

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922921(C;T)
Make rs193922921(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position29798641
GeneKIF22
is asnp
is mentioned by
dbSNPrs193922921
ebirs193922921
HLIrs193922921
Exacrs193922921
Varsomers193922921
Maprs193922921
PheGenIrs193922921
hapmaprs193922921
1000 genomesrs193922921
hgdprs193922921
ensemblrs193922921
gopubmedrs193922921
geneviewrs193922921
scholarrs193922921
googlers193922921
pharmgkbrs193922921
gwascentralrs193922921
openSNPrs193922921
23andMers193922921
23andMe allrs193922921
SNP Nexus

SNPshotrs193922921
SNPdbers193922921
MSV3drs193922921
GWAS Ctlgrs193922921
Max Magnitude0
ClinVar
Risk rs193922921(T;T)
Alt rs193922921(T;T)
Reference rs193922921(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.29809962C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023269.2,