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.
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
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
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
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
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.700 0
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
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
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
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
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
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
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
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
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
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
Squamous cell carcinoma of the head and neck
348 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.710 1.000 2 2016 2019
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
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