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: rs121913472
rs121913472
FGFR1
8 38424691 missense variant G/T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.700 1.000 1 2014 2014
dbSNP: rs1361944246
rs1361944246
FGFR1
8 38440361 synonymous variant C/A;T snv 9.1E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2012 2012
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: rs375611478
rs375611478
FGFR1
8 38414584 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2018 2018
dbSNP: rs375611478
rs375611478
FGFR1
8 38414584 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2018 2018
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: rs557263543
rs557263543
FGFR1
8 38412508 3 prime UTR variant C/T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2016 2016
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: rs557263543
rs557263543
FGFR1
8 38412508 3 prime UTR variant C/T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2016 2016
dbSNP: rs752627281
rs752627281
FGFR1
1.000 8 38419631 missense variant C/T snv 2.4E-05 6.3E-05
CUI: C0000846
Disease: Agenesis
Agenesis 		0.010 1.000 1 2007 2007
dbSNP: rs587776835
rs587776835
FGFR1
1.000 8 38418340 frameshift variant CA/- del
CUI: C4016104
Disease: HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA 		0.700 0
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: 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
dbSNP: rs1306185959
rs1306185959
FGFR1
0.851 0.040 8 38429805 missense variant T/C snv 7.0E-06
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.010 1.000 1 2017 2017
dbSNP: rs1306185959
rs1306185959
FGFR1
0.851 0.040 8 38429805 missense variant T/C snv 7.0E-06
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 1.000 1 2017 2017
dbSNP: rs1306185959
rs1306185959
FGFR1
0.851 0.040 8 38429805 missense variant T/C snv 7.0E-06
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 1.000 1 2017 2017
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: rs57709857
rs57709857
FGFR1
1.000 0.040 8 38432906 intron variant G/A;C snv
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		0.700 1.000 1 2017 2017
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
dbSNP: rs727505370
rs727505370
FGFR1
1.000 0.040 8 38414840 missense variant A/G snv
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		0.700 0
dbSNP: rs727505370
rs727505370
FGFR1
1.000 0.040 8 38414840 missense variant A/G snv
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		0.700 0
dbSNP: rs727505371
rs727505371
FGFR1
1.000 0.040 8 38421840 frameshift variant AG/- delins 4.0E-06
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		0.700 0
dbSNP: rs727505371
rs727505371
FGFR1
1.000 0.040 8 38421840 frameshift variant AG/- delins 4.0E-06
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		0.700 0
dbSNP: rs727505377
rs727505377
FGFR1
1.000 0.040 8 38414001 missense variant A/G snv
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		0.700 0
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