rs121909629, 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 0.200 8 38415905 missense variant C/T snv 0.700 1.000 15 2003 2015
HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA
CUI: C4016104
Disease: HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA
11 0.882 0.200 8 38415905 missense variant C/T snv 0.700 0
leukemia
CUI: C0023418
Disease: leukemia
144 0.882 0.200 8 38415905 missense variant C/T snv 0.010 1.000 1 2017 2017