IFT172, intraflagellar transport 172, 26160

N. diseases: 123; N. variants: 31
Disease: SHORT-RIB THORACIC DYSPLASIA 10 WITHOUT 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: rs145541911
rs145541911 		0.925 2 27480049 missense variant G/A snv 9.2E-05 2.9E-04
CUI: C4017084
Disease: SHORT-RIB THORACIC DYSPLASIA 10 WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 10 WITHOUT POLYDACTYLY 		0.700 0
dbSNP: rs587777078
rs587777078 		1.000 2 27445436 frameshift variant TCTC/- delins 8.1E-06 1.4E-05
CUI: C4017084
Disease: SHORT-RIB THORACIC DYSPLASIA 10 WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 10 WITHOUT POLYDACTYLY 		0.700 0
dbSNP: rs587777080
rs587777080 		0.925 2 27447567 missense variant A/G snv
CUI: C4017084
Disease: SHORT-RIB THORACIC DYSPLASIA 10 WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 10 WITHOUT POLYDACTYLY 		0.700 0
dbSNP: rs587777081
rs587777081 		1.000 2 27459449 stop gained G/A snv 4.0E-06 7.0E-06
CUI: C4017084
Disease: SHORT-RIB THORACIC DYSPLASIA 10 WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 10 WITHOUT POLYDACTYLY 		0.700 0
dbSNP: rs587777082
rs587777082 		1.000 2 27457638 splice donor variant C/T snv
CUI: C4017084
Disease: SHORT-RIB THORACIC DYSPLASIA 10 WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 10 WITHOUT POLYDACTYLY 		0.700 0
dbSNP: rs587777084
rs587777084 		1.000 2 27476657 inframe deletion TCAATA/- delins
CUI: C4017084
Disease: SHORT-RIB THORACIC DYSPLASIA 10 WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 10 WITHOUT POLYDACTYLY 		0.700 0
dbSNP: rs587777086
rs587777086 		1.000 2 27461794 frameshift variant G/- delins 2.8E-05
CUI: C4017084
Disease: SHORT-RIB THORACIC DYSPLASIA 10 WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 10 WITHOUT POLYDACTYLY 		0.700 0