Disease: SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs201948500
rs201948500 		0.882 0.120 2 43794485 missense variant C/G snv 2.4E-05 4.9E-05
CUI: C4310724
Disease: SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY 		0.800 1.000 2 2015 2015
dbSNP: rs886037860
rs886037860 		1.000 2 43800845 missense variant C/T snv 1.7E-05 3.5E-05
CUI: C4310724
Disease: SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY 		0.800 1.000 2 2015 2015
dbSNP: rs1553359373
rs1553359373 		1.000 2 43776896 frameshift variant -/A ins
CUI: C4310724
Disease: SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY 		0.700 0
dbSNP: rs200859699
rs200859699 		1.000 2 43774140 start lost T/C snv 5.2E-05 1.4E-05
CUI: C4310724
Disease: SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY 		0.700 0
dbSNP: rs374356079
rs374356079 		0.882 0.120 2 43805247 splice donor variant G/A snv 2.0E-05 7.0E-06
CUI: C4310724
Disease: SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY 		0.700 0
dbSNP: rs745930390
rs745930390 		1.000 2 43796760 stop gained C/G;T snv 4.0E-05
CUI: C4310724
Disease: SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY 		0.700 0
dbSNP: rs752971070
rs752971070 		1.000 2 43800830 intron variant T/- delins 1.3E-05 3.5E-05
CUI: C4310724
Disease: SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY 		0.700 0
dbSNP: rs769975073
rs769975073 		0.882 0.120 2 43794508 stop gained G/A snv 6.0E-05 7.0E-06
CUI: C4310724
Disease: SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY 		0.700 0
dbSNP: rs770155116
rs770155116 		0.925 0.120 2 43794554 frameshift variant A/- delins 1.6E-05 2.8E-05
CUI: C4310724
Disease: SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY 		0.700 0
dbSNP: rs879255655
rs879255655 		0.882 0.120 2 43809711 stop gained G/T snv
CUI: C4310724
Disease: SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY 		0.700 0
dbSNP: rs879255656
rs879255656 		0.882 0.120 2 43805249 splice region variant A/G snv
CUI: C4310724
Disease: SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY 		0.700 0