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: rs768918396
rs768918396
FGFR1
1.000 0.080 8 38419732 missense variant A/G snv 4.0E-06 1.4E-05
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.010 1.000 1 2011 2011
dbSNP: rs121909628
rs121909628
FGFR1
0.925 0.160 8 38414892 stop gained G/A;C snv
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		0.700 0
dbSNP: rs121909636
rs121909636
FGFR1
0.827 0.240 8 38414569 stop gained G/A snv
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		0.700 0
dbSNP: rs727505369
rs727505369
FGFR1
0.925 0.160 8 38424624 missense variant T/C snv
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		0.700 0
dbSNP: rs727505370
rs727505370
FGFR1
1.000 0.040 8 38414840 missense variant A/G snv
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		0.700 0
dbSNP: rs727505371
rs727505371
FGFR1
1.000 0.040 8 38421840 frameshift variant AG/- delins 4.0E-06
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		0.700 0
dbSNP: rs727505373
rs727505373
FGFR1
0.925 0.160 8 38429744 missense variant T/C snv
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		0.700 0
dbSNP: rs121909635
rs121909635
FGFR1
0.827 0.240 8 38426158 missense variant C/T snv
CUI: C0399352
Disease: Developmental absence of tooth
Developmental absence of tooth 		0.010 < 0.001 1 2006 2006
dbSNP: rs121909636
rs121909636
FGFR1
0.827 0.240 8 38414569 stop gained G/A snv
CUI: C0399352
Disease: Developmental absence of tooth
Developmental absence of tooth 		0.010 < 0.001 1 2006 2006
dbSNP: rs267606805
rs267606805
FGFR1
0.851 0.240 8 38414173 missense variant G/T snv
CUI: C0399352
Disease: Developmental absence of tooth
Developmental absence of tooth 		0.010 < 0.001 1 2006 2006
dbSNP: rs267606806
rs267606806
FGFR1
0.851 0.240 8 38414166 missense variant G/A;C snv 1.2E-05
CUI: C0399352
Disease: Developmental absence of tooth
Developmental absence of tooth 		0.010 < 0.001 1 2006 2006
dbSNP: rs869320694
rs869320694
FGFR1
0.742 0.520 8 38414790 missense variant T/C snv
CUI: C1333286
Disease: Diencephalic Neoplasm
Diencephalic Neoplasm 		0.010 1.000 1 2014 2014
dbSNP: rs869320694
rs869320694
FGFR1
0.742 0.520 8 38414790 missense variant T/C snv
CUI: C0406612
Disease: Encephalocraniocutaneous lipomatosis
Encephalocraniocutaneous lipomatosis 		0.810 1.000 3 2009 2018
dbSNP: rs779707422
rs779707422
FGFR1
0.763 0.280 8 38417331 missense variant G/A;T snv 4.0E-06
CUI: C0406612
Disease: Encephalocraniocutaneous lipomatosis
Encephalocraniocutaneous lipomatosis 		0.820 1.000 2 2016 2019
dbSNP: rs755595684
rs755595684
FGFR1
1.000 0.200 8 38421937 missense variant G/A snv 4.0E-06
CUI: C0406612
Disease: Encephalocraniocutaneous lipomatosis
Encephalocraniocutaneous lipomatosis 		0.010 1.000 1 2019 2019
dbSNP: rs121909641
rs121909641
FGFR1
0.763 0.520 8 38419720 missense variant G/A snv
CUI: C0406612
Disease: Encephalocraniocutaneous lipomatosis
Encephalocraniocutaneous lipomatosis 		0.700 0
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: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		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: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		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: rs1306185959
rs1306185959
FGFR1
0.851 0.040 8 38429805 missense variant T/C snv 7.0E-06
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 1.000 1 2017 2017
dbSNP: rs869320694
rs869320694
FGFR1
0.742 0.520 8 38414790 missense variant T/C snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		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: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 1.000 1 2017 2017
dbSNP: rs121909644
rs121909644
FGFR1
0.925 0.160 8 38413795 missense variant C/A;T snv
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification 		0.010 < 0.001 1 2016 2016
dbSNP: rs528376963
rs528376963
FGFR1
1.000 0.120 8 38424565 missense variant C/T snv 4.0E-06
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.700 0