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: rs1057518967
rs1057518967
1.000 0.040 7 94423102 missense variant G/A snv
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.700 0
dbSNP: rs1209546147
rs1209546147
1.000 0.040 12 47980597 missense variant C/T snv
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.700 0
dbSNP: rs515726153
rs515726153
1.000 0.040 12 109796638 missense variant T/C snv
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.700 0
dbSNP: rs515726154
rs515726154
1.000 0.040 12 109794406 inframe deletion AAG/- delins
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.700 0
dbSNP: rs515726155
rs515726155
1.000 0.040 12 109793945 inframe insertion -/GGA delins
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.700 0
dbSNP: rs515726157
rs515726157
1.000 0.040 12 109792704 missense variant T/C snv
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.700 0
dbSNP: rs515726166
rs515726166
1.000 0.040 12 109784362 frameshift variant TCATTCTTGCCCGGGTC/- delins
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.700 0
dbSNP: rs515726169
rs515726169
1.000 0.040 12 109800754 missense variant C/G snv
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.700 0
dbSNP: rs749621890
rs749621890
0.851 0.040 8 28717012 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.700 0
dbSNP: rs751994699
rs751994699
1.000 0.040 1 21563170 frameshift variant GG/- delins 4.0E-06 2.1E-05
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.700 0
dbSNP: rs369634007
rs369634007
0.882 0.080 2 112098688 missense variant A/G snv 1.6E-05 2.1E-05
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.700 1.000 1 2016 2016
dbSNP: rs886044555
rs886044555
0.925 0.080 12 47985772 missense variant C/T snv
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.010 1.000 1 2017 2017
dbSNP: rs1057516230
rs1057516230
0.925 0.080 1 21554124 frameshift variant AACT/- delins
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.700 0
dbSNP: rs116571438
rs116571438
0.925 0.080 12 109788483 missense variant G/A;T snv 8.0E-06
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.700 0
dbSNP: rs121912632
rs121912632
0.882 0.080 12 109792407 missense variant C/T snv
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.700 0
dbSNP: rs121912634
rs121912634
0.925 0.080 12 109798768 missense variant T/C snv
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.700 0
dbSNP: rs121912635
rs121912635
0.925 0.080 12 109788462 missense variant C/A snv
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.700 0
dbSNP: rs267607150
rs267607150
0.925 0.080 12 109792671 missense variant T/C snv
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.700 0
dbSNP: rs387906324
rs387906324
0.925 0.080 12 109808308 missense variant C/T snv
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.700 0
dbSNP: rs387906902
rs387906902
0.925 0.080 12 109793560 missense variant G/C;T snv 4.0E-06
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.700 0
dbSNP: rs387906904
rs387906904
0.851 0.080 12 109803009 missense variant G/A snv
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.700 0
dbSNP: rs515726159
rs515726159
0.925 0.080 12 109792689 missense variant A/G snv
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.700 0
dbSNP: rs515726160
rs515726160
0.925 0.080 12 109792678 missense variant C/A snv
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.700 0
dbSNP: rs515726164
rs515726164
0.925 0.080 12 109792379 missense variant C/T snv
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.700 0
dbSNP: rs515726165
rs515726165
0.925 0.080 12 109786716 missense variant C/T snv
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.700 0