Source: CURATED

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: rs121909642
rs121909642
FGFR1
0.925 0.160 8 38414174 missense variant G/A snv
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.700 1.000 15 2003 2015
dbSNP: rs140254426
rs140254426
FGFR1
1.000 0.160 8 38429832 missense variant C/A;T snv 8.0E-06
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.700 1.000 15 2003 2015
dbSNP: rs397515444
rs397515444
FGFR1
0.925 0.160 8 38417975 missense variant G/A;T snv 4.0E-06
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.700 1.000 15 2003 2015
dbSNP: rs397515445
rs397515445
FGFR1
0.807 0.280 8 38414263 missense variant T/C snv
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.700 1.000 15 2003 2015
dbSNP: rs397515446
rs397515446
FGFR1
0.925 0.160 8 38414599 missense variant C/T snv
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.700 1.000 15 2003 2015
dbSNP: rs55642501
rs55642501
FGFR1
1.000 0.160 8 38429736 missense variant C/T snv 4.2E-04 1.7E-04
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.700 1.000 15 2003 2015
dbSNP: rs749758370
rs749758370
FGFR1
1.000 0.160 8 38417411 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.700 1.000 15 2003 2015
dbSNP: rs760884357
rs760884357
FGFR1
1.000 0.160 8 38457435 missense variant C/G snv 4.0E-06
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.700 1.000 15 2003 2015
dbSNP: rs765615419
rs765615419
FGFR1
1.000 0.160 8 38428408 missense variant T/C;G snv 1.4E-04
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.700 1.000 15 2003 2015
dbSNP: rs768957161
rs768957161
FGFR1
1.000 0.160 8 38414231 missense variant C/T snv 2.8E-05 2.8E-05
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.700 1.000 15 2003 2015
dbSNP: rs780765366
rs780765366
FGFR1
1.000 0.160 8 38429690 missense variant T/C snv 6.1E-05 4.9E-05
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.700 1.000 15 2003 2015
dbSNP: rs781328162
rs781328162
FGFR1
0.925 0.160 8 38413714 missense variant C/T snv 2.0E-05 3.5E-05
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.700 1.000 15 2003 2015
dbSNP: rs886037634
rs886037634
FGFR1
0.925 0.160 8 38421836 missense variant C/T snv
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.700 1.000 15 2003 2015
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: rs1554570706
rs1554570706
FGFR1
0.925 0.200 8 38429808 missense variant G/A snv
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.700 1.000 2 2006 2017
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: C0004114
Disease: Astrocytoma
Astrocytoma 		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: 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: 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: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		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: 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: 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: C0677865
Disease: Brain Stem Glioma
Brain Stem Glioma 		0.700 1.000 1 2016 2016