rs1057516049, KAT6A

N. diseases: 7
Disease: Bulbous nose ×
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.
Bulbous nose
CUI: C0240543
Disease: Bulbous nose
13 0.851 0.040 8 41933963 frameshift variant CACT/- delins 0.700 0