rs515726224, 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.
Idiopathic hypogonadotropic hypogonadism
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
66 0.925 0.320 8 38417962 missense variant C/T snv 0.700 1.000 1 2013 2013
Sense of smell impaired
CUI: C2364082
Disease: Sense of smell impaired
12 0.925 0.320 8 38417962 missense variant C/T snv 0.700 1.000 1 2013 2013
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
CUI: C1845146
Disease: Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
17 0.925 0.320 8 38417962 missense variant C/T snv 0.700 0