Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs869320694
rs869320694
FGFR1
0.742 0.520 8 38414790 missense variant T/C snv
CUI: C0406612
Disease: Encephalocraniocutaneous lipomatosis
Encephalocraniocutaneous lipomatosis 		0.810 1.000 3 2009 2018
dbSNP: rs869320694
rs869320694
FGFR1
0.742 0.520 8 38414790 missense variant T/C snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.700 1.000 1 2016 2016
dbSNP: rs869320694
rs869320694
FGFR1
0.742 0.520 8 38414790 missense variant T/C snv
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		0.700 1.000 1 2016 2016
dbSNP: rs869320694
rs869320694
FGFR1
0.742 0.520 8 38414790 missense variant T/C snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs869320694
rs869320694
FGFR1
0.742 0.520 8 38414790 missense variant T/C snv
CUI: C1855472
Disease: Acute lymphoblastic leukemia with lymphomatous features
Acute lymphoblastic leukemia with lymphomatous features 		0.700 1.000 1 2016 2016
dbSNP: rs869320694
rs869320694
FGFR1
0.742 0.520 8 38414790 missense variant T/C snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs869320694
rs869320694
FGFR1
0.742 0.520 8 38414790 missense variant T/C snv
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.700 1.000 1 2016 2016
dbSNP: rs869320694
rs869320694
FGFR1
0.742 0.520 8 38414790 missense variant T/C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 1.000 3 2014 2018
dbSNP: rs869320694
rs869320694
FGFR1
0.742 0.520 8 38414790 missense variant T/C snv
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 1.000 1 2000 2000
dbSNP: rs869320694
rs869320694
FGFR1
0.742 0.520 8 38414790 missense variant T/C snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2016 2016
dbSNP: rs869320694
rs869320694
FGFR1
0.742 0.520 8 38414790 missense variant T/C snv
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.010 1.000 1 2000 2000
dbSNP: rs869320694
rs869320694
FGFR1
0.742 0.520 8 38414790 missense variant T/C snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2016 2016
dbSNP: rs869320694
rs869320694
FGFR1
0.742 0.520 8 38414790 missense variant T/C snv
CUI: C1333286
Disease: Diencephalic Neoplasm
Diencephalic Neoplasm 		0.010 1.000 1 2014 2014
dbSNP: rs869320694
rs869320694
FGFR1
0.742 0.520 8 38414790 missense variant T/C snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.010 1.000 1 2018 2018
dbSNP: rs869320694
rs869320694
FGFR1
0.742 0.520 8 38414790 missense variant T/C snv
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2 		0.010 1.000 1 2000 2000
dbSNP: rs869320694
rs869320694
FGFR1
0.742 0.520 8 38414790 missense variant T/C snv
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 1.000 1 2016 2016