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: 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: 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: rs121909627
rs121909627
FGFR1
0.776 0.200 8 38424690 missense variant G/C snv 4.0E-06
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.010 1.000 1 1999 1999
dbSNP: rs121909627
rs121909627
FGFR1
0.776 0.200 8 38424690 missense variant G/C snv 4.0E-06
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		0.010 1.000 1 1999 1999
dbSNP: rs121909629
rs121909629
FGFR1
0.882 0.200 8 38415905 missense variant C/T snv
CUI: C0023418
Disease: leukemia
leukemia 		0.010 1.000 1 2017 2017
dbSNP: rs121909631
rs121909631
FGFR1
0.827 0.280 8 38419696 missense variant T/C snv
CUI: C0039144
Disease: Syringomyelia
Syringomyelia 		0.010 1.000 1 2002 2002
dbSNP: rs121909631
rs121909631
FGFR1
0.827 0.280 8 38419696 missense variant T/C snv
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.010 1.000 1 2002 2002
dbSNP: rs121909631
rs121909631
FGFR1
0.827 0.280 8 38419696 missense variant T/C snv
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		0.010 1.000 1 2002 2002
dbSNP: rs121909631
rs121909631
FGFR1
0.827 0.280 8 38419696 missense variant T/C snv
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 < 0.001 1 2006 2006
dbSNP: rs121909635
rs121909635
FGFR1
0.827 0.240 8 38426158 missense variant C/T snv
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.010 < 0.001 1 2006 2006
dbSNP: rs121909635
rs121909635
FGFR1
0.827 0.240 8 38426158 missense variant C/T snv
CUI: C0080233
Disease: Tooth Loss
Tooth Loss 		0.010 < 0.001 1 2006 2006
dbSNP: rs121909635
rs121909635
FGFR1
0.827 0.240 8 38426158 missense variant C/T snv
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		0.010 < 0.001 1 2006 2006
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: rs121909635
rs121909635
FGFR1
0.827 0.240 8 38426158 missense variant C/T snv
CUI: C2364082
Disease: Sense of smell impaired
Sense of smell impaired 		0.010 < 0.001 1 2006 2006
dbSNP: rs121909636
rs121909636
FGFR1
0.827 0.240 8 38414569 stop gained G/A snv
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		0.010 < 0.001 1 2006 2006
dbSNP: rs121909636
rs121909636
FGFR1
0.827 0.240 8 38414569 stop gained G/A snv
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.010 < 0.001 1 2006 2006
dbSNP: rs121909636
rs121909636
FGFR1
0.827 0.240 8 38414569 stop gained G/A snv
CUI: C0080233
Disease: Tooth Loss
Tooth Loss 		0.010 < 0.001 1 2006 2006
dbSNP: rs121909636
rs121909636
FGFR1
0.827 0.240 8 38414569 stop gained G/A snv
CUI: C2364082
Disease: Sense of smell impaired
Sense of smell impaired 		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: rs121909637
rs121909637
FGFR1
0.882 0.240 8 38418249 missense variant C/A;T snv 1.2E-05; 2.0E-05
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.010 1.000 1 2019 2019
dbSNP: rs121909637
rs121909637
FGFR1
0.882 0.240 8 38418249 missense variant C/A;T snv 1.2E-05; 2.0E-05
CUI: C2699510
Disease: Split-Hand/Foot Malformation
Split-Hand/Foot Malformation 		0.010 1.000 1 2019 2019
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: rs121909640
rs121909640
FGFR1
0.925 0.160 8 38429898 missense variant C/T snv
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		0.010 1.000 1 2006 2006
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: 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