rs1057519041, FGFR2

N. diseases: 2
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.
Congenital posterior urethral valves
1 0.925 0.160 10 121517465 splice acceptor variant T/C snv 0.700 0
Pfeiffer Syndrome
CUI: C0220658
Disease: Pfeiffer Syndrome
36 0.925 0.160 10 121517465 splice acceptor variant T/C snv 0.700 0