rs779707422, 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 0.763 0.280 8 38417331 missense variant G/A;T snv 4.0E-06 0.820 1.000 0 2016 2019
Astrocytoma
CUI: C0004114
Disease: Astrocytoma
11 0.763 0.280 8 38417331 missense variant G/A;T snv 4.0E-06 0.700 1.000 1 2016 2016
Brain Stem Glioma
CUI: C0677865
Disease: Brain Stem Glioma
45 0.763 0.280 8 38417331 missense variant G/A;T snv 4.0E-06 0.700 1.000 1 2016 2016
Gastric Adenocarcinoma
CUI: C0278701
Disease: Gastric Adenocarcinoma
188 0.763 0.280 8 38417331 missense variant G/A;T snv 4.0E-06 0.700 1.000 1 2016 2016
Medulloblastoma
CUI: C0025149
Disease: Medulloblastoma
80 0.763 0.280 8 38417331 missense variant G/A;T snv 4.0E-06 0.700 1.000 1 2016 2016
NEUROBLASTOMA, SUSCEPTIBILITY TO
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
34 0.763 0.280 8 38417331 missense variant G/A;T snv 4.0E-06 0.700 1.000 1 2016 2016
Rosette-forming glioneuronal neoplasm
CUI: C4331262
Disease: Rosette-forming glioneuronal neoplasm
2 0.763 0.280 8 38417331 missense variant G/A;T snv 4.0E-06 0.700 0