rs121909645, 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 0.240 8 38424696 missense variant C/G;T snv 0.800 1.000 15 2003 2015
Lobar Holoprosencephaly
CUI: C0431362
Disease: Lobar Holoprosencephaly
2 0.925 0.240 8 38424696 missense variant C/G;T snv 0.700 0