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: rs751222088
rs751222088
IFT81
0.925 12 110127467 missense variant G/C snv 3.7E-05 3.5E-05
CUI: C4693524
Disease: SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY 		0.800 1.000 1 2016 2016
dbSNP: rs200335504
rs200335504
IFT81
0.882 0.120 12 110192683 stop gained C/T snv 2.6E-05 7.7E-05
CUI: C4693524
Disease: SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY 		0.700 1.000 1 2016 2016
dbSNP: rs143130309
rs143130309
IFT81
12 110163027 missense variant C/A;T snv 2.0E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs200335504
rs200335504
IFT81
0.882 0.120 12 110192683 stop gained C/T snv 2.6E-05 7.7E-05
CUI: C4694006
Disease: SHORT-RIB THORACIC DYSPLASIA 19 WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 19 WITHOUT POLYDACTYLY 		0.700 0
dbSNP: rs200335504
rs200335504
IFT81
0.882 0.120 12 110192683 stop gained C/T snv 2.6E-05 7.7E-05
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		0.700 0
dbSNP: rs576969206
rs576969206
IFT81
1.000 12 110143385 stop gained T/C;G snv
CUI: C4693524
Disease: SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY 		0.700 0
dbSNP: rs751222088
rs751222088
IFT81
0.925 12 110127467 missense variant G/C snv 3.7E-05 3.5E-05
CUI: C4694006
Disease: SHORT-RIB THORACIC DYSPLASIA 19 WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 19 WITHOUT POLYDACTYLY 		0.700 0
dbSNP: rs761469100
rs761469100
IFT81
12 110128960 missense variant C/T snv 1.2E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0