rs121909637, FGFR1

N. diseases: 3
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.
Kallmann Syndrome 2 (disorder)
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
45 0.882 0.240 8 38418249 missense variant C/A;T snv 1.2E-05; 2.0E-05 0.800 1.000 15 2003 2015
Hypodontia
CUI: C0020608
Disease: Hypodontia
48 0.882 0.240 8 38418249 missense variant C/A;T snv 1.2E-05; 2.0E-05 0.010 1.000 1 2019 2019
Split-Hand/Foot Malformation
CUI: C2699510
Disease: Split-Hand/Foot Malformation
6 0.882 0.240 8 38418249 missense variant C/A;T snv 1.2E-05; 2.0E-05 0.010 1.000 1 2019 2019