rs727505373, 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.
Delayed Puberty
CUI: C0034012
Disease: Delayed Puberty
21 0.925 0.160 8 38429744 missense variant T/C snv 0.700 0
Idiopathic hypogonadotropic hypogonadism
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
66 0.925 0.160 8 38429744 missense variant T/C snv 0.700 0
Kallmann Syndrome 2 (disorder)
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
45 0.925 0.160 8 38429744 missense variant T/C snv 0.700 0