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: rs886039802
rs886039802
BBS4
0.851 0.200 15 72712259 stop gained C/T snv
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: rs886039807
rs886039807
TMEM231
0.776 0.480 16 75541466 non coding transcript exon variant A/G snv 4.2E-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
dbSNP: rs1488635637
rs1488635637
MKS1
0.827 0.360 17 58208003 splice acceptor variant T/C;G snv 7.0E-06
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.700 0
dbSNP: rs754279998
rs754279998
MKS1
0.776 0.360 17 58208153 inframe deletion GAG/- delins 2.0E-05 1.4E-05
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.700 0
dbSNP: rs786205508
rs786205508
MKS1
0.851 0.200 17 58208542 stop gained G/A snv
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.700 0
dbSNP: rs886039803
rs886039803
MKS1
0.925 0.120 17 58216664 splice donor variant A/T snv
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.700 0
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: 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