rs869320694, FGFR1

N. diseases: 7
Source: CLINVAR ×
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
CUI: C0406612
Disease: Encephalocraniocutaneous lipomatosis
3 0.742 0.520 8 38414790 missense variant T/C snv 0.810 1.000 0 2009 2018
Acute lymphoblastic leukemia with lymphomatous features
CUI: C1855472
Disease: 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
11 0.742 0.520 8 38414790 missense variant T/C snv 0.700 1.000 1 2016 2016
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
115 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
142 0.742 0.520 8 38414790 missense variant T/C snv 0.700 1.000 1 2016 2016
Medulloblastoma
CUI: C0025149
Disease: Medulloblastoma
80 0.742 0.520 8 38414790 missense variant T/C snv 0.700 1.000 1 2016 2016
Transitional cell carcinoma of bladder
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
141 0.742 0.520 8 38414790 missense variant T/C snv 0.700 1.000 1 2016 2016