rs1057516039, KMT2D

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.
Cleft palate, isolated
CUI: C1837218
Disease: Cleft palate, isolated
70 0.882 0.280 12 49029400 splice donor variant C/T snv 0.700 1.000 1 2016 2016
Kabuki make-up syndrome
CUI: C0796004
Disease: Kabuki make-up syndrome
253 0.882 0.280 12 49029400 splice donor variant C/T snv 0.700 1.000 1 2016 2016
Partially duplicated kidney
CUI: C4024630
Disease: Partially duplicated kidney
1 0.882 0.280 12 49029400 splice donor variant C/T snv 0.700 1.000 1 2016 2016
Sensorineural Hearing Loss (disorder)
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
111 0.882 0.280 12 49029400 splice donor variant C/T snv 0.700 1.000 1 2016 2016
Ventricular Septal Defects
CUI: C0018818
Disease: Ventricular Septal Defects
87 0.882 0.280 12 49029400 splice donor variant C/T snv 0.700 1.000 1 2016 2016