Source: UNIPROT

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: rs121912870
rs121912870
COL2A1
1.000 0.080 12 47975971 missense variant C/T snv
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
Spondyloepiphyseal dysplasia, congenita 		0.800 1.000 8 1989 2001
dbSNP: rs121912874
rs121912874
COL2A1
0.716 0.400 12 47978329 missense variant G/A snv
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
Spondyloepiphyseal dysplasia, congenita 		0.800 1.000 8 1989 2001
dbSNP: rs121912883
rs121912883
COL2A1
1.000 0.080 12 47976043 missense variant C/G snv
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
Spondyloepiphyseal dysplasia, congenita 		0.800 1.000 8 1989 2001
dbSNP: rs121912886
rs121912886
COL2A1
0.925 0.080 12 47974090 missense variant G/A;T snv 8.0E-05
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
Spondyloepiphyseal dysplasia, congenita 		0.800 1.000 8 1989 2001
dbSNP: rs121912867
rs121912867
COL2A1 ; LOC105369752
0.925 0.080 12 47982142 missense variant C/T snv
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
Spondyloepiphyseal dysplasia, congenita 		0.700 1.000 8 1989 2001
dbSNP: rs121912879
rs121912879
COL2A1 ; LOC105369752
0.925 0.080 12 47980017 missense variant C/G snv
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
Spondyloepiphyseal dysplasia, congenita 		0.700 1.000 8 1989 2001
dbSNP: rs1193507525
rs1193507525
COL2A1 ; LOC105369752
0.925 0.080 12 47980616 missense variant C/T snv
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
Spondyloepiphyseal dysplasia, congenita 		0.700 0