Source: CURATED

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: rs886039811
rs886039811
B9D1
0.807 0.320 17 19357875 missense variant A/G snv 4.0E-06
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.700 0
dbSNP: rs758522600
rs758522600
BBS10
0.851 0.240 12 76347023 frameshift variant CTAA/- delins 4.0E-06 2.8E-05
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.700 0
dbSNP: rs121918327
rs121918327
BBS12
0.776 0.240 4 122742955 stop gained C/T snv 2.8E-05 1.4E-05
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.700 0
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.700 0
dbSNP: rs121908175
rs121908175
BBS2
0.790 0.160 16 56519791 stop gained G/C snv 5.2E-05 2.8E-05
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.700 0
dbSNP: rs147030232
rs147030232
BBS2
0.827 0.160 16 56501014 stop gained G/A;C snv 2.0E-05; 4.0E-06
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.700 0
dbSNP: rs886039797
rs886039797
BBS2
0.807 0.280 16 56502807 missense variant A/C snv 4.0E-06
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.700 0
dbSNP: rs886039800
rs886039800
BBS4
0.851 0.240 15 72735944 frameshift variant G/- del
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.700 0
dbSNP: rs886039802
rs886039802
BBS4
0.851 0.200 15 72712259 stop gained C/T snv
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.700 0
dbSNP: rs749974697
rs749974697
BBS9
0.851 0.240 7 33152851 stop gained C/A;T snv 4.0E-06; 1.6E-05
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.700 0
dbSNP: rs775081992
rs775081992
BBS9
0.851 0.240 7 33152811 stop gained C/T snv 2.0E-05
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.700 0
dbSNP: rs886039799
rs886039799
BBS9
0.763 0.320 7 33273896 frameshift variant C/- del
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.700 0
dbSNP: rs886039801
rs886039801
BBS9
0.851 0.240 7 33388145 splice donor variant G/A snv
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.700 0
dbSNP: rs137852832
rs137852832
CEP290
0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.700 0
dbSNP: rs121908425
rs121908425
CRMP1 ; EVC
0.763 0.160 4 5748226 stop gained C/A;T snv 3.2E-05; 1.2E-05
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.700 0
dbSNP: rs1565329461
rs1565329461
DYNC2H1
0.851 0.200 11 103135949 splice donor variant G/A snv
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.700 0
dbSNP: rs201948500
rs201948500
DYNC2LI1
0.882 0.120 2 43794485 missense variant C/G snv 2.4E-05 4.9E-05
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.700 0
dbSNP: rs374356079
rs374356079
DYNC2LI1
0.882 0.120 2 43805247 splice donor variant G/A snv 2.0E-05 7.0E-06
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.700 0
dbSNP: rs769975073
rs769975073
DYNC2LI1
0.882 0.120 2 43794508 stop gained G/A snv 6.0E-05 7.0E-06
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.700 0
dbSNP: rs879255656
rs879255656
DYNC2LI1
0.882 0.120 2 43805249 splice region variant A/G snv
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.700 0
dbSNP: rs879255655
rs879255655
DYNC2LI1 ; ABCG5
0.882 0.120 2 43809711 stop gained G/T snv
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.700 0
dbSNP: rs753317536
rs753317536
EVC
0.790 0.160 4 5719239 intron variant G/A;C snv 8.0E-06; 4.0E-06
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.700 0
dbSNP: rs201037487
rs201037487
FAM98C
0.925 0.120 19 38407003 stop gained C/G;T snv 4.0E-06; 1.4E-04; 4.0E-06 4.9E-05
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.700 0
dbSNP: rs200750564
rs200750564
HOXD13
0.827 0.160 2 176094518 stop gained C/T snv 8.0E-06 7.0E-06
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.700 0
dbSNP: rs137853105
rs137853105
MKS1
0.882 0.160 17 58206479 missense variant A/C snv 5.6E-05 2.8E-05
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.700 0