rs121909644, FGFR1

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.
Kallmann Syndrome 2 (disorder)
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
45 0.925 0.160 8 38413795 missense variant C/A;T snv 0.800 1.000 15 2003 2015
HER2 gene amplification
CUI: C1512127
Disease: HER2 gene amplification
14 0.925 0.160 8 38413795 missense variant C/A;T snv 0.010 1 2016 2016