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: rs3213849
rs3213849
FGFR1
8 38468528 5 prime UTR variant G/A;C snv
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs756016701
rs756016701
FGFR1
0.882 0.080 8 38419718 missense variant C/A snv 4.0E-06
CUI: C0432124
Disease: Unicoronal craniosynostosis
Unicoronal craniosynostosis 		0.010 1.000 1 2000 2000
dbSNP: rs981703846
rs981703846
FGFR1
0.882 0.080 8 38421872 missense variant C/A;T snv 8.0E-06
CUI: C0432124
Disease: Unicoronal craniosynostosis
Unicoronal craniosynostosis 		0.010 1.000 1 2000 2000
dbSNP: rs557263543
rs557263543
FGFR1
8 38412508 3 prime UTR variant C/T snv
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 1.000 1 2016 2016
dbSNP: rs869320694
rs869320694
FGFR1
0.742 0.520 8 38414790 missense variant T/C snv
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 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: rs869320694
rs869320694
FGFR1
0.742 0.520 8 38414790 missense variant T/C snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
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: 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: rs267606805
rs267606805
FGFR1
0.851 0.240 8 38414173 missense variant G/T snv
CUI: C0080233
Disease: Tooth Loss
Tooth Loss 		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: C0080233
Disease: Tooth Loss
Tooth Loss 		0.010 < 0.001 1 2006 2006
dbSNP: rs869320694
rs869320694
FGFR1
0.742 0.520 8 38414790 missense variant T/C snv
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2 		0.010 1.000 1 2000 2000
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: rs746082633
rs746082633
FGFR1
0.827 0.280 8 38418270 missense variant T/C snv 1.6E-05 1.4E-05
CUI: C0039144
Disease: Syringomyelia
Syringomyelia 		0.010 1.000 1 2002 2002
dbSNP: rs756016701
rs756016701
FGFR1
0.882 0.080 8 38419718 missense variant C/A snv 4.0E-06
CUI: C0039075
Disease: Syndactyly
Syndactyly 		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: C0039075
Disease: Syndactyly
Syndactyly 		0.010 1.000 1 2002 2002
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: rs148480919
rs148480919
FGFR1
1.000 0.080 8 38429704 synonymous variant G/A snv 4.5E-04 1.5E-03
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia 		0.010 1.000 1 2012 2012
dbSNP: rs934813061
rs934813061
FGFR1
1.000 0.080 8 38429803 synonymous variant G/C snv
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia 		0.010 1.000 1 2012 2012
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: C2364082
Disease: Sense of smell impaired
Sense of smell impaired 		0.010 < 0.001 1 2006 2006
dbSNP: rs267606805
rs267606805
FGFR1
0.851 0.240 8 38414173 missense variant G/T snv
CUI: C2364082
Disease: Sense of smell impaired
Sense of smell impaired 		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: C2364082
Disease: Sense of smell impaired
Sense of smell impaired 		0.010 < 0.001 1 2006 2006
dbSNP: rs515726224
rs515726224
FGFR1
0.925 0.320 8 38417962 missense variant C/T snv
CUI: C2364082
Disease: Sense of smell impaired
Sense of smell impaired 		0.700 1.000 1 2013 2013
dbSNP: rs515726225
rs515726225
FGFR1
1.000 0.160 8 38414254 missense variant G/A snv
CUI: C2364082
Disease: Sense of smell impaired
Sense of smell impaired 		0.700 1.000 1 2013 2013