rs1554110673, TFAP2A

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.
Branchio-Oculo-Facial Syndrome
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
16 1.000 0.040 6 10398417 stop lost T/C snv 0.700 0