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: rs1057519897
rs1057519897
FGFR1
0.807 0.240 8 38414788 missense variant C/G;T snv 4.0E-06
CUI: C1855472
Disease: Acute lymphoblastic leukemia with lymphomatous features
Acute lymphoblastic leukemia with lymphomatous features 		0.700 1.000 1 2016 2016
dbSNP: rs1057519897
rs1057519897
FGFR1
0.807 0.240 8 38414788 missense variant C/G;T snv 4.0E-06
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs1057519897
rs1057519897
FGFR1
0.807 0.240 8 38414788 missense variant C/G;T snv 4.0E-06
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519897
rs1057519897
FGFR1
0.807 0.240 8 38414788 missense variant C/G;T snv 4.0E-06
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519897
rs1057519897
FGFR1
0.807 0.240 8 38414788 missense variant C/G;T snv 4.0E-06
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519897
rs1057519897
FGFR1
0.807 0.240 8 38414788 missense variant C/G;T snv 4.0E-06
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519898
rs1057519898
FGFR1
0.851 0.120 8 38417333 missense variant T/C snv
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.700 1.000 1 2016 2016
dbSNP: rs1057519898
rs1057519898
FGFR1
0.851 0.120 8 38417333 missense variant T/C snv
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519898
rs1057519898
FGFR1
0.851 0.120 8 38417333 missense variant T/C snv
CUI: C0677865
Disease: Brain Stem Glioma
Brain Stem Glioma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519898
rs1057519898
FGFR1
0.851 0.120 8 38417333 missense variant T/C snv
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519898
rs1057519898
FGFR1
0.851 0.120 8 38417333 missense variant T/C snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519899
rs1057519899
FGFR1
0.851 0.120 8 38417879 missense variant T/C snv
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519899
rs1057519899
FGFR1
0.851 0.120 8 38417879 missense variant T/C snv
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519899
rs1057519899
FGFR1
0.851 0.120 8 38417879 missense variant T/C snv
CUI: C0677865
Disease: Brain Stem Glioma
Brain Stem Glioma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519899
rs1057519899
FGFR1
0.851 0.120 8 38417879 missense variant T/C snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519899
rs1057519899
FGFR1
0.851 0.120 8 38417879 missense variant T/C snv
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.700 1.000 1 2016 2016
dbSNP: rs1060499663
rs1060499663
FGFR1
1.000 0.160 8 38416013 frameshift variant C/- delins
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.700 0
dbSNP: rs1064793123
rs1064793123
FGFR1
1.000 0.040 8 38421859 missense variant G/A snv
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		0.010 1.000 1 2020 2020
dbSNP: rs1085307879
rs1085307879
FGFR1
1.000 0.160 8 38414183 missense variant T/C snv
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.700 0
dbSNP: rs1126485
rs1126485
FGFR1
1.000 0.160 8 38424522 missense variant A/G snv
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.010 1.000 1 2011 2011
dbSNP: rs1131691929
rs1131691929
FGFR1
1.000 0.160 8 38424628 missense variant C/T snv
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.700 0
dbSNP: rs121909627
rs121909627
FGFR1
0.776 0.200 8 38424690 missense variant G/C snv 4.0E-06
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.850 1.000 11 1994 2014
dbSNP: rs121909627
rs121909627
FGFR1
0.776 0.200 8 38424690 missense variant G/C snv 4.0E-06
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.700 1.000 10 1994 2014
dbSNP: rs121909627
rs121909627
FGFR1
0.776 0.200 8 38424690 missense variant G/C snv 4.0E-06
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		0.030 1.000 3 1999 2014
dbSNP: rs121909627
rs121909627
FGFR1
0.776 0.200 8 38424690 missense variant G/C snv 4.0E-06
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		0.030 1.000 3 2004 2017