Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs193922921
rs193922921
KIF22
1.000 0.120 16 29798641 missense variant C/T snv
CUI: C1863732
Disease: Spondyloepimetaphyseal dysplasia with multiple dislocations
Spondyloepimetaphyseal dysplasia with multiple dislocations 		0.800 1.000 3 2011 2015
dbSNP: rs193922920
rs193922920
KIF22
1.000 0.120 16 29798640 missense variant C/T snv
CUI: C1863732
Disease: Spondyloepimetaphyseal dysplasia with multiple dislocations
Spondyloepimetaphyseal dysplasia with multiple dislocations 		0.800 1.000 2 2011 2011
dbSNP: rs193922922
rs193922922
KIF22
1.000 0.120 16 29798644 missense variant G/A;T snv
CUI: C1863732
Disease: Spondyloepimetaphyseal dysplasia with multiple dislocations
Spondyloepimetaphyseal dysplasia with multiple dislocations 		0.800 1.000 2 2011 2011