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.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.925 0.040 6 10404511 missense variant C/G;T snv 0.700 1.000 6 1995 2015
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 0.925 0.040 6 10404511 missense variant C/G;T snv 0.700 1.000 6 1995 2015
Branchio-Oculo-Facial Syndrome
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
16 0.925 0.040 6 10404511 missense variant C/G;T snv 0.700 0