rs1556028269, GPC4

N. diseases: 1
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.
Nasodigitoacoustic syndrome
CUI: C1850627
Disease: Nasodigitoacoustic syndrome
6 1.000 0.200 X 133339186 frameshift variant C/- del 0.700 0