Source: CURATED

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: 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: rs1057519899
rs1057519899
FGFR1
0.851 0.120 8 38417879 missense variant T/C snv
CUI: C0677865
Disease: Brain Stem Glioma
Brain Stem Glioma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519899
rs1057519899
FGFR1
0.851 0.120 8 38417879 missense variant T/C snv
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.700 1.000 1 2016 2016
dbSNP: rs1057519899
rs1057519899
FGFR1
0.851 0.120 8 38417879 missense variant T/C snv
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519899
rs1057519899
FGFR1
0.851 0.120 8 38417879 missense variant T/C snv
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.700 1.000 1 2016 2016
dbSNP: rs121909633
rs121909633
FGFR1
1.000 0.080 8 38424546 missense variant A/G snv 2.9E-04 4.1E-04
CUI: C0432122
Disease: Interfrontal craniofaciosynostosis
Interfrontal craniofaciosynostosis 		0.700 1.000 1 2000 2000
dbSNP: rs121913472
rs121913472
FGFR1
8 38424691 missense variant G/T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.700 1.000 1 2014 2014
dbSNP: rs121913473
rs121913473
FGFR1
1.000 0.080 8 38428420 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.700 1.000 1 2014 2014
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: 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: rs1554552774
rs1554552774
FGFR1
0.925 0.200 8 38418227 splice donor variant C/T snv
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.700 1.000 1 2003 2003
dbSNP: rs1554552774
rs1554552774
FGFR1
0.925 0.200 8 38418227 splice donor variant C/T snv
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.700 1.000 1 2003 2003
dbSNP: rs1554564353
rs1554564353
FGFR1
1.000 0.160 8 38426242 missense variant G/A snv
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.700 1.000 1 2017 2017
dbSNP: rs1554570813
rs1554570813
FGFR1
0.925 0.200 8 38429826 stop gained G/A snv
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		0.700 1.000 1 2016 2016
dbSNP: rs1554570813
rs1554570813
FGFR1
0.925 0.200 8 38429826 stop gained G/A snv
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs1554594114
rs1554594114
FGFR1
1.000 0.160 8 38457441 stop gained C/T snv
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.700 1.000 1 2017 2017
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: rs3925
rs3925
FGFR1
8 38424140 non coding transcript exon variant G/A snv 0.19
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs515726223
rs515726223
FGFR1
1.000 0.040 8 38424655 missense variant T/G snv
CUI: C3489396
Disease: Hypogonadism, Isolated Hypogonadotropic
Hypogonadism, Isolated Hypogonadotropic 		0.700 1.000 1 2013 2013
dbSNP: rs515726224
rs515726224
FGFR1
0.925 0.320 8 38417962 missense variant C/T snv
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		0.700 1.000 1 2013 2013
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
dbSNP: rs515726225
rs515726225
FGFR1
1.000 0.160 8 38414254 missense variant G/A snv
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.700 1.000 1 2013 2013
dbSNP: rs57709857
rs57709857
FGFR1
1.000 0.040 8 38432906 intron variant G/A;C snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 1.000 1 2017 2017