Source: CLINVAR

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: rs121912636
rs121912636
0.925 0.120 12 109798775 missense variant T/A;C snv 4.0E-06
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.700 0
dbSNP: rs121912637
rs121912637
0.851 0.160 12 109784378 missense variant G/A;C snv
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.700 0
dbSNP: rs267607147
rs267607147
0.925 0.120 12 109784379 missense variant G/A;C snv
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.700 0
dbSNP: rs267607148
rs267607148
0.882 0.120 12 109800639 missense variant C/T snv
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.700 0
dbSNP: rs267607149
rs267607149
0.851 0.120 12 109784385 missense variant C/T 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: 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