rs121918508, FGFR2

N. diseases: 4
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.
Lacrimoauriculodentodigital syndrome
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
33 0.851 0.360 10 121488035 missense variant C/T snv 0.800 1.000 2 2006 2007
Hypospadias
CUI: C0848558
Disease: Hypospadias
80 0.851 0.360 10 121488035 missense variant C/T snv 0.010 1.000 1 2019 2019
Hypospadias, perineal
CUI: C0452148
Disease: Hypospadias, perineal
15 0.851 0.360 10 121488035 missense variant C/T snv 0.010 1.000 1 2019 2019
Penile hypospadias
CUI: C1691215
Disease: Penile hypospadias
83 0.851 0.360 10 121488035 missense variant C/T snv 0.010 1.000 1 2019 2019