rs1360128571, INTU

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 20 WITH POLYDACTYLY
CUI: C4693616
Disease: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY
3 0.925 0.080 4 127700059 missense variant A/C snv 2.8E-05 0.800 1.000 1 2016 2016
Short Rib-Polydactyly Syndrome
CUI: C0036996
Disease: Short Rib-Polydactyly Syndrome
13 0.925 0.080 4 127700059 missense variant A/C snv 2.8E-05 0.700 0