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: 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: C0399526
Disease: Class III malocclusion
Class III malocclusion 		0.010 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: rs1458235863
rs1458235863
FGFR1
0.925 0.160 8 38412424 3 prime UTR variant G/A snv 5.6E-05
CUI: C0036220
Disease: Kaposi Sarcoma
Kaposi Sarcoma 		0.010 1.000 1 2014 2014
dbSNP: rs1458235863
rs1458235863
FGFR1
0.925 0.160 8 38412424 3 prime UTR variant G/A snv 5.6E-05
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2018 2018
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: rs1458235863
rs1458235863
FGFR1
0.925 0.160 8 38412424 3 prime UTR variant G/A snv 5.6E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2018 2018
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: rs781328162
rs781328162
FGFR1
0.925 0.160 8 38413714 missense variant C/T snv 2.0E-05 3.5E-05
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.700 1.000 15 2003 2015
dbSNP: rs781328162
rs781328162
FGFR1
0.925 0.160 8 38413714 missense variant C/T snv 2.0E-05 3.5E-05
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		0.010 1.000 1 2006 2006
dbSNP: rs867532966
rs867532966
FGFR1
1.000 0.120 8 38413738 missense variant T/C snv
CUI: C1838329
Disease: APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS
APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS 		0.010 1.000 1 2019 2019
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: rs746602135
rs746602135
FGFR1
0.925 0.160 8 38413746 missense variant C/T snv 3.2E-05 4.9E-05
CUI: C1563719
Disease: Kallmann Syndrome 1
Kallmann Syndrome 1 		0.010 1.000 1 2011 2011
dbSNP: rs121909644
rs121909644
FGFR1
0.925 0.160 8 38413795 missense variant C/A;T snv
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.800 1.000 15 2003 2015
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: rs121909643
rs121909643
FGFR1
1.000 0.160 8 38413918 missense variant C/A;G snv
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.700 0
dbSNP: rs374473310
rs374473310
FGFR1
0.925 0.200 8 38413943 missense variant C/T snv 2.0E-05 2.1E-05
CUI: C0341862
Disease: Hypothalamic amenorrhea
Hypothalamic amenorrhea 		0.010 1.000 1 2011 2011
dbSNP: rs374473310
rs374473310
FGFR1
0.925 0.200 8 38413943 missense variant C/T snv 2.0E-05 2.1E-05
CUI: C1563719
Disease: Kallmann Syndrome 1
Kallmann Syndrome 1 		0.010 1.000 1 2011 2011
dbSNP: rs1444167285
rs1444167285
FGFR1
1.000 0.280 8 38413994 missense variant G/A snv 1.4E-05
CUI: C1845146
Disease: Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate 		0.010 1.000 1 2019 2019
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: rs398122945
rs398122945
FGFR1
1.000 0.280 8 38414164 missense variant C/T snv
CUI: C1845146
Disease: Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate 		0.800 1.000 2 2013 2014
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: rs267606806
rs267606806
FGFR1
0.851 0.240 8 38414166 missense variant G/A;C snv 1.2E-05
CUI: C0399352
Disease: Developmental absence of tooth
Developmental absence of tooth 		0.010 < 0.001 1 2006 2006