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: rs1424371425
rs1424371425
FGFR1
1.000 0.160 8 38461099 frameshift variant -/C delins 7.4E-05 4.2E-05
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.010 1.000 1 2008 2008
dbSNP: rs755580322
rs755580322
FGFR1
1.000 0.080 8 38415905 frameshift variant -/GTGAAGAT ins
CUI: C0036220
Disease: Kaposi Sarcoma
Kaposi Sarcoma 		0.010 1.000 1 2014 2014
dbSNP: rs869025672
rs869025672
FGFR1
0.925 0.320 8 38414872 missense variant A/C;G snv 8.0E-06
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: rs869025672
rs869025672
FGFR1
0.925 0.320 8 38414872 missense variant A/C;G snv 8.0E-06
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		0.010 1.000 1 2000 2000
dbSNP: rs121909638
rs121909638
FGFR1
0.882 0.280 8 38421853 missense variant A/G snv
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.700 1.000 15 2003 2015
dbSNP: rs121909634
rs121909634
FGFR1
1.000 0.080 8 38419676 missense variant A/G snv
CUI: C0432283
Disease: Osteoglophonic dwarfism
Osteoglophonic dwarfism 		0.800 1.000 2 2005 2006
dbSNP: rs397515481
rs397515481
FGFR1
1.000 0.280 8 38428048 missense variant A/G 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: rs869025669
rs869025669
FGFR1
1.000 0.280 8 38427970 missense variant A/G 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: rs1126485
rs1126485
FGFR1
1.000 0.160 8 38424522 missense variant A/G snv
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.010 1.000 1 2011 2011
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: rs121909638
rs121909638
FGFR1
0.882 0.280 8 38421853 missense variant A/G snv
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.010 1.000 1 2017 2017
dbSNP: rs768918396
rs768918396
FGFR1
1.000 0.080 8 38419732 missense variant A/G snv 4.0E-06 1.4E-05
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.010 1.000 1 2011 2011
dbSNP: rs7825208
rs7825208
FGFR1
1.000 0.080 8 38469769 upstream gene variant A/G snv 0.16
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs886042254
rs886042254
FGFR1
0.925 0.160 8 38428079 missense variant A/G snv
CUI: C0036220
Disease: Kaposi Sarcoma
Kaposi Sarcoma 		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: rs121909638
rs121909638
FGFR1
0.882 0.280 8 38421853 missense variant A/G snv
CUI: C4016104
Disease: HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA 		0.700 0
dbSNP: rs1563433902
rs1563433902
FGFR1
1.000 0.280 8 38414611 missense variant A/G snv
CUI: C1845146
Disease: Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate 		0.700 0
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: 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: rs1554551667
rs1554551667
FGFR1
1.000 0.280 8 38417365 missense variant A/T snv
CUI: C1845146
Disease: Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate 		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: rs1554551657
rs1554551657
FGFR1
1.000 0.280 8 38417363 inframe deletion ATC/- delins
CUI: C1845146
Disease: Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate 		0.700 0
dbSNP: rs1060499663
rs1060499663
FGFR1
1.000 0.160 8 38416013 frameshift variant C/- delins
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.700 0