rs121913483, FGFR3

N. diseases: 14
Source: BEFREE ×
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.
Malignant neoplasm of urinary bladder
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
289 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.820 1.000 2 1999 2019
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
14 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.810 1.000 1 1995 2016
Carcinoma
CUI: C0007097
Disease: Carcinoma
90 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.740 1.000 4 1999 2005
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
290 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.720 1.000 2 2007 2019
Squamous cell carcinoma of lung
CUI: C0149782
Disease: Squamous cell carcinoma of lung
38 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.710 1.000 1 2015 2016
Squamous cell carcinoma of the head and neck
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
171 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.710 1.000 1 2016 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
1571 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.080 1.000 8 2000 2019
Bladder Neoplasm
CUI: C0005695
Disease: Bladder Neoplasm
278 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.020 1.000 2 2007 2019
Squamous cell carcinoma
CUI: C0007137
Disease: Squamous cell carcinoma
197 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
1441 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
163 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