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.
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
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
8 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.700 0
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
9 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.700 0
CATSHL syndrome
CUI: C1864852
Disease: CATSHL syndrome
10 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.700 0
Muenke Syndrome
CUI: C1864436
Disease: Muenke Syndrome
11 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.700 0
NEVUS, EPIDERMAL (disorder)
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
17 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.700 0
Thanatophoric dysplasia, type 2
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
17 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.700 0
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
18 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.810 1.000 7 1995 2016
Seborrheic keratosis
CUI: C0022603
Disease: Seborrheic keratosis
21 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.800 1.000 1 2005 2005
Achondroplasia
CUI: C0001080
Disease: Achondroplasia
21 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.700 0
Papillary renal cell carcinoma, sporadic
30 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.700 1.000 1 2016 2016
Malignant neoplasm of testis
CUI: C0153594
Disease: Malignant neoplasm of testis
31 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.700 0
Lacrimoauriculodentodigital syndrome
33 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.700 0
Hypochondroplasia (disorder)
CUI: C0410529
Disease: Hypochondroplasia (disorder)
42 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.700 0
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
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
90 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.700 1.000 6 1995 2015
Carcinoma
CUI: C0007097
Disease: Carcinoma
103 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.740 1.000 5 1999 2005
Transitional cell carcinoma of bladder
158 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.700 1.000 1 2016 2016
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
cervical cancer
CUI: C4048328
Disease: cervical cancer
268 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.700 0
Bladder Neoplasm
CUI: C0005695
Disease: Bladder Neoplasm
281 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 of lung
CUI: C0149782
Disease: Squamous cell carcinoma of lung
283 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.710 1.000 2 2015 2016
Cervix carcinoma
CUI: C0302592
Disease: Cervix carcinoma
283 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.700 0
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
309 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.720 1.000 4 2007 2019
Malignant neoplasm of urinary bladder
316 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.820 1.000 4 1999 2019