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: rs779707422
rs779707422
FGFR1
0.763 0.280 8 38417331 missense variant G/A;T snv 4.0E-06
CUI: C1332995
Disease: Childhood Pilocytic Astrocytoma
Childhood Pilocytic Astrocytoma 		0.010 1.000 1 2019 2019
dbSNP: rs13317
rs13317
FGFR1
0.882 0.120 8 38411996 3 prime UTR variant T/C snv 0.23
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		0.010 1.000 1 2017 2017
dbSNP: rs397515445
rs397515445
FGFR1
0.807 0.280 8 38414263 missense variant T/C snv
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		0.010 1.000 1 2015 2015
dbSNP: rs13317
rs13317
FGFR1
0.882 0.120 8 38411996 3 prime UTR variant T/C snv 0.23
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.700 1.000 1 2017 2017
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: 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: rs267606805
rs267606805
FGFR1
0.851 0.240 8 38414173 missense variant G/T snv
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		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: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		0.010 < 0.001 1 2006 2006
dbSNP: rs397515445
rs397515445
FGFR1
0.807 0.280 8 38414263 missense variant T/C snv
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		0.010 1.000 1 2015 2015
dbSNP: rs13317
rs13317
FGFR1
0.882 0.120 8 38411996 3 prime UTR variant T/C snv 0.23
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.700 1.000 1 2017 2017
dbSNP: rs397515445
rs397515445
FGFR1
0.807 0.280 8 38414263 missense variant T/C snv
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.010 1.000 1 2015 2015
dbSNP: rs1458235863
rs1458235863
FGFR1
0.925 0.160 8 38412424 3 prime UTR variant G/A snv 5.6E-05
CUI: C3899503
Disease: Congenital hypogonadotropic hypogonadism
Congenital hypogonadotropic hypogonadism 		0.010 1.000 1 2014 2014
dbSNP: rs746602135
rs746602135
FGFR1
0.925 0.160 8 38413746 missense variant C/T snv 3.2E-05 4.9E-05
CUI: C3899503
Disease: Congenital hypogonadotropic hypogonadism
Congenital hypogonadotropic hypogonadism 		0.010 1.000 1 2012 2012
dbSNP: rs747333248
rs747333248
FGFR1
0.925 0.160 8 38418234 missense variant C/T snv 2.4E-05 1.4E-05
CUI: C3899503
Disease: Congenital hypogonadotropic hypogonadism
Congenital hypogonadotropic hypogonadism 		0.010 1.000 1 2014 2014
dbSNP: rs780153672
rs780153672
FGFR1
0.925 0.160 8 38428352 missense variant G/A snv 2.8E-05 2.1E-05
CUI: C3899503
Disease: Congenital hypogonadotropic hypogonadism
Congenital hypogonadotropic hypogonadism 		0.010 1.000 1 2014 2014
dbSNP: rs886042254
rs886042254
FGFR1
0.925 0.160 8 38428079 missense variant A/G snv
CUI: C3899503
Disease: Congenital hypogonadotropic hypogonadism
Congenital hypogonadotropic hypogonadism 		0.010 1.000 1 2014 2014
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: 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: rs746082633
rs746082633
FGFR1
0.827 0.280 8 38418270 missense variant T/C snv 1.6E-05 1.4E-05
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		0.010 1.000 1 2002 2002
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: 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: rs746082633
rs746082633
FGFR1
0.827 0.280 8 38418270 missense variant T/C snv 1.6E-05 1.4E-05
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		0.010 1.000 1 2002 2002
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: 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