rs786205567, IFT122

N. diseases: 5
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Cranioectodermal dysplasia
CUI: C4551571
Disease: Cranioectodermal dysplasia
22 0.925 0.120 3 129500070 splice donor variant T/C snv 0.700 0
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.925 0.120 3 129500070 splice donor variant T/C snv 0.700 0
Natal Teeth
CUI: C0027443
Disease: Natal Teeth
2 0.925 0.120 3 129500070 splice donor variant T/C snv 0.700 0
Short extremities
CUI: C0239399
Disease: Short extremities
10 0.925 0.120 3 129500070 splice donor variant T/C snv 0.700 0
Syndactyly, type 2
CUI: C2699746
Disease: Syndactyly, type 2
12 0.925 0.120 3 129500070 splice donor variant T/C snv 0.700 0