rs397515445, FGFR1

N. diseases: 7
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 0.807 0.280 8 38414263 missense variant T/C snv 0.700 1.000 15 2003 2015
HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA
CUI: C4016104
Disease: HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA
11 0.807 0.280 8 38414263 missense variant T/C snv 0.700 0
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
70 0.807 0.280 8 38414263 missense variant T/C snv 0.010 1.000 1 2015 2015
Cleft lip or lips
CUI: C4321245
Disease: Cleft lip or lips
37 0.807 0.280 8 38414263 missense variant T/C snv 0.010 1.000 1 2015 2015
Cleft palate with cleft lip
CUI: C0158646
Disease: Cleft palate with cleft lip
43 0.807 0.280 8 38414263 missense variant T/C snv 0.010 1.000 1 2015 2015
Cleft upper lip
CUI: C0008924
Disease: Cleft upper lip
282 0.807 0.280 8 38414263 missense variant T/C snv 0.010 1.000 1 2015 2015
Kallmann Syndrome
CUI: C0162809
Disease: Kallmann Syndrome
30 0.807 0.280 8 38414263 missense variant T/C snv 0.010 1.000 1 2015 2015