rs1057519043, FGFR2

N. diseases: 3
Source: CLINVAR ×
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.
Craniofacial dysostosis type 1
CUI: C2931196
Disease: Craniofacial dysostosis type 1
34 0.851 0.120 10 121517391 missense variant C/A;G;T snv 0.710 1.000 0 2018 2018
Apert syndrome
CUI: C0001193
Disease: Apert syndrome
14 0.851 0.120 10 121517391 missense variant C/A;G;T snv 0.700 1.000 4 1995 2018
Cutis Gyrata Syndrome of Beare And Stevenson
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
13 0.851 0.120 10 121517391 missense variant C/A;G;T snv 0.700 1.000 4 1996 2013