rs869320694, FGFR1

N. diseases: 16
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.
Encephalocraniocutaneous lipomatosis
6 0.742 0.520 8 38414790 missense variant T/C snv 0.810 1.000 3 2009 2018
Acute lymphoblastic leukemia with lymphomatous features
12 0.742 0.520 8 38414790 missense variant T/C snv 0.700 1.000 1 2016 2016
Astrocytoma
CUI: C0004114
Disease: Astrocytoma
59 0.742 0.520 8 38414790 missense variant T/C snv 0.700 1.000 1 2016 2016
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
281 0.742 0.520 8 38414790 missense variant T/C snv 0.700 1.000 1 2016 2016
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
942 0.742 0.520 8 38414790 missense variant T/C snv 0.700 1.000 1 2016 2016
Medulloblastoma
CUI: C0025149
Disease: Medulloblastoma
115 0.742 0.520 8 38414790 missense variant T/C snv 0.700 1.000 1 2016 2016
Transitional cell carcinoma of bladder
158 0.742 0.520 8 38414790 missense variant T/C snv 0.700 1.000 1 2016 2016
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.742 0.520 8 38414790 missense variant T/C snv 0.030 1.000 3 2014 2018
Carcinoma
CUI: C0007097
Disease: Carcinoma
103 0.742 0.520 8 38414790 missense variant T/C snv 0.010 1.000 1 2000 2000
Diencephalic Neoplasm
CUI: C1333286
Disease: Diencephalic Neoplasm
1 0.742 0.520 8 38414790 missense variant T/C snv 0.010 1.000 1 2014 2014
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.742 0.520 8 38414790 missense variant T/C snv 0.010 1.000 1 2016 2016
Multiple Myeloma
CUI: C0026764
Disease: Multiple Myeloma
865 0.742 0.520 8 38414790 missense variant T/C snv 0.010 1.000 1 2000 2000
Neurofibromatosis 1
CUI: C0027831
Disease: Neurofibromatosis 1
827 0.742 0.520 8 38414790 missense variant T/C snv 0.010 1.000 1 2018 2018
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.742 0.520 8 38414790 missense variant T/C snv 0.010 1.000 1 2016 2016
Thanatophoric dysplasia, type 2
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
17 0.742 0.520 8 38414790 missense variant T/C snv 0.010 1.000 1 2000 2000
Tumor Progression
CUI: C0178874
Disease: Tumor Progression
72 0.742 0.520 8 38414790 missense variant T/C snv 0.010 1.000 1 2016 2016