rs121909636, 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.
Delayed Puberty
CUI: C0034012
Disease: Delayed Puberty
21 0.827 0.240 8 38414569 stop gained G/A snv 0.700 0
Kallmann Syndrome 2 (disorder)
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
45 0.827 0.240 8 38414569 stop gained G/A snv 0.700 0
Cleft palate with cleft lip
CUI: C0158646
Disease: Cleft palate with cleft lip
43 0.827 0.240 8 38414569 stop gained G/A snv 0.010 1 2006 2006
Developmental absence of tooth
CUI: C0399352
Disease: Developmental absence of tooth
15 0.827 0.240 8 38414569 stop gained G/A snv 0.010 1 2006 2006
Kallmann Syndrome
CUI: C0162809
Disease: Kallmann Syndrome
30 0.827 0.240 8 38414569 stop gained G/A snv 0.010 1 2006 2006
Sense of smell impaired
CUI: C2364082
Disease: Sense of smell impaired
12 0.827 0.240 8 38414569 stop gained G/A snv 0.010 1 2006 2006
Tooth Loss
CUI: C0080233
Disease: Tooth Loss
8 0.827 0.240 8 38414569 stop gained G/A snv 0.010 1 2006 2006