rs886037869, IFT52

N. diseases: 2
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.
SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY
CUI: C4310718
Disease: SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY
1 0.925 0.080 20 43613959 missense variant G/A snv 4.0E-06 7.0E-06 0.700 1.000 2 2016 2016
Short Rib-Polydactyly Syndrome
CUI: C0036996
Disease: Short Rib-Polydactyly Syndrome
13 0.925 0.080 20 43613959 missense variant G/A snv 4.0E-06 7.0E-06 0.700 0