rs121913483, FGFR3

N. diseases: 31
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.
Squamous cell carcinoma
CUI: C0007137
Disease: Squamous cell carcinoma
257 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.020 1.000 2 2001 2018
Carcinoma of urinary bladder, superficial
CUI: C1336527
Disease: Carcinoma of urinary bladder, superficial
6 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.010 1.000 1 2007 2007
Congenital Abnormality
CUI: C0000768
Disease: Congenital Abnormality
73 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.010 1.000 1 2016 2016
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.010 1.000 1 2019 2019
Nasopharyngeal carcinoma
CUI: C2931822
Disease: Nasopharyngeal carcinoma
320 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.010 1.000 1 2001 2001
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.010 1.000 1 2019 2019