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: 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
dbSNP: rs869320694
rs869320694
FGFR1
0.742 0.520 8 38414790 missense variant T/C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 1.000 3 2014 2018
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: rs981703846
rs981703846
FGFR1
0.882 0.080 8 38421872 missense variant C/A;T snv 8.0E-06
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.030 1.000 3 2000 2011
dbSNP: rs121909627
rs121909627
FGFR1
0.776 0.200 8 38424690 missense variant G/C snv 4.0E-06
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.020 1.000 2 1997 2000
dbSNP: rs121909631
rs121909631
FGFR1
0.827 0.280 8 38419696 missense variant T/C snv
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism 		0.800 1.000 2 2005 2006
dbSNP: rs121909632
rs121909632
FGFR1
1.000 0.080 8 38421889 missense variant T/A;C snv 4.0E-06
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism 		0.800 1.000 2 2005 2006
dbSNP: rs121909634
rs121909634
FGFR1
1.000 0.080 8 38419676 missense variant A/G snv
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism 		0.800 1.000 2 2005 2006
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: rs397515481
rs397515481
FGFR1
1.000 0.280 8 38428048 missense variant A/G snv
CUI: C1845146
Disease: Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate 		0.800 1.000 2 2013 2014
dbSNP: rs398122945
rs398122945
FGFR1
1.000 0.280 8 38414164 missense variant C/T snv
CUI: C1845146
Disease: Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate 		0.800 1.000 2 2013 2014
dbSNP: rs398122946
rs398122946
FGFR1
1.000 0.280 8 38414889 missense variant C/A snv
CUI: C1845146
Disease: Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate 		0.800 1.000 2 2013 2014
dbSNP: rs756016701
rs756016701
FGFR1
0.882 0.080 8 38419718 missense variant C/A snv 4.0E-06
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.020 1.000 2 2000 2002
dbSNP: rs779707422
rs779707422
FGFR1
0.763 0.280 8 38417331 missense variant G/A;T snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 1.000 2 2015 2016
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: rs869025669
rs869025669
FGFR1
1.000 0.280 8 38427970 missense variant A/G snv
CUI: C1845146
Disease: Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate 		0.800 1.000 2 2013 2014
dbSNP: rs869025670
rs869025670
FGFR1
1.000 0.280 8 38417954 missense variant C/G;T snv
CUI: C1845146
Disease: Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate 		0.800 1.000 2 2013 2014
dbSNP: rs869025671
rs869025671
FGFR1
1.000 0.280 8 38414876 missense variant C/G snv
CUI: C1845146
Disease: Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate 		0.800 1.000 2 2013 2014
dbSNP: rs869025672
rs869025672
FGFR1
0.925 0.320 8 38414872 missense variant A/C;G snv 8.0E-06
CUI: C1845146
Disease: Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate 		0.800 1.000 2 2013 2014
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