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: 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: rs1306185959
rs1306185959
FGFR1
0.851 0.040 8 38429805 missense variant T/C snv 7.0E-06
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.010 1.000 1 2017 2017
dbSNP: rs779707422
rs779707422
FGFR1
0.763 0.280 8 38417331 missense variant G/A;T snv 4.0E-06
CUI: C0280781
Disease: Adult Pilocytic Astrocytoma
Adult Pilocytic Astrocytoma 		0.010 1.000 1 2019 2019
dbSNP: rs752627281
rs752627281
FGFR1
1.000 8 38419631 missense variant C/T snv 2.4E-05 6.3E-05
CUI: C0000846
Disease: Agenesis
Agenesis 		0.010 1.000 1 2007 2007
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: rs773225979
rs773225979
FGFR1
1.000 0.120 8 38428364 missense variant T/C snv 2.4E-05
CUI: C1838329
Disease: APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS
APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS 		0.010 1.000 1 2019 2019
dbSNP: rs867532966
rs867532966
FGFR1
1.000 0.120 8 38413738 missense variant T/C snv
CUI: C1838329
Disease: APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS
APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS 		0.010 1.000 1 2019 2019
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: 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: C0004114
Disease: Astrocytoma
Astrocytoma 		0.700 1.000 1 2016 2016
dbSNP: rs779707422
rs779707422
FGFR1
0.763 0.280 8 38417331 missense variant G/A;T snv 4.0E-06
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: C0004114
Disease: Astrocytoma
Astrocytoma 		0.700 1.000 1 2016 2016
dbSNP: rs3925
rs3925
FGFR1
8 38424140 non coding transcript exon variant G/A snv 0.19
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs779707422
rs779707422
FGFR1
0.763 0.280 8 38417331 missense variant G/A;T snv 4.0E-06
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.010 1.000 1 2019 2019
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: 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: rs779707422
rs779707422
FGFR1
0.763 0.280 8 38417331 missense variant G/A;T snv 4.0E-06
CUI: C0677865
Disease: Brain Stem Glioma
Brain Stem Glioma 		0.700 1.000 1 2016 2016
dbSNP: rs17182023
rs17182023
FGFR1
0.925 0.080 8 38469497 upstream gene variant C/T snv 0.28
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs397515445
rs397515445
FGFR1
0.807 0.280 8 38414263 missense variant T/C snv
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.010 1.000 1 2015 2015
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: rs121909638
rs121909638
FGFR1
0.882 0.280 8 38421853 missense variant A/G snv
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.010 1.000 1 2017 2017
dbSNP: rs1563436265
rs1563436265
FGFR1
1.000 0.280 8 38414875 missense variant C/G snv
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		0.700 0
dbSNP: rs57709857
rs57709857
FGFR1
1.000 0.040 8 38432906 intron variant G/A;C snv
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		0.700 1.000 1 2017 2017
dbSNP: rs1306185959
rs1306185959
FGFR1
0.851 0.040 8 38429805 missense variant T/C snv 7.0E-06
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 1.000 1 2017 2017