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: rs387906903
rs387906903
0.925 0.120 12 109803113 missense variant T/C snv
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: rs387906906
rs387906906
0.925 0.120 12 109786827 missense variant G/A snv
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.700 0
dbSNP: rs387906907
rs387906907
0.925 0.120 12 109800645 missense variant T/C snv
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.700 0
dbSNP: rs397514473
rs397514473
0.925 0.120 12 109814531 missense variant G/A snv
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.700 0
dbSNP: rs397514474
rs397514474
0.925 0.120 12 109814565 missense variant C/A snv
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.700 0
dbSNP: rs515726152
rs515726152
0.925 0.120 12 109798742 missense variant C/A 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: rs515726158
rs515726158
0.925 0.120 12 109792702 missense variant A/G 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: rs515726161
rs515726161
0.925 0.120 12 109792664 missense variant G/C snv
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.700 0
dbSNP: rs515726162
rs515726162
0.925 0.120 12 109792403 missense variant G/T snv
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.700 0
dbSNP: rs515726163
rs515726163
0.925 0.120 12 109792401 missense variant A/G 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
dbSNP: rs515726166
rs515726166
1.000 0.040 12 109784362 frameshift variant TCATTCTTGCCCGGGTC/- delins
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.700 0
dbSNP: rs515726167
rs515726167
0.925 0.120 12 109803106 missense variant C/G;T snv 4.0E-06
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: rs515726171
rs515726171
0.925 0.120 12 109798883 missense variant T/C snv
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.700 0
dbSNP: rs515726172
rs515726172
0.925 0.120 12 109798774 missense variant A/G snv
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.700 0
dbSNP: rs66527965
rs66527965
0.763 0.240 17 50193038 missense variant C/A;T snv
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.700 0