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: 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: 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: 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: rs1563436265
rs1563436265
FGFR1
1.000 0.280 8 38414875 missense variant C/G snv
CUI: C1845146
Disease: Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate 		0.700 0
dbSNP: rs1563436265
rs1563436265
FGFR1
1.000 0.280 8 38414875 missense variant C/G snv
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		0.700 0
dbSNP: rs397515444
rs397515444
FGFR1
0.925 0.160 8 38417975 missense variant G/A;T snv 4.0E-06
CUI: C4016104
Disease: HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA 		0.700 0
dbSNP: rs397515445
rs397515445
FGFR1
0.807 0.280 8 38414263 missense variant T/C snv
CUI: C4016104
Disease: HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA 		0.700 0
dbSNP: rs397515446
rs397515446
FGFR1
0.925 0.160 8 38414599 missense variant C/T snv
CUI: C4016104
Disease: HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA 		0.700 0
dbSNP: rs515726224
rs515726224
FGFR1
0.925 0.320 8 38417962 missense variant C/T snv
CUI: C1845146
Disease: Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate 		0.700 0
dbSNP: rs528376963
rs528376963
FGFR1
1.000 0.120 8 38424565 missense variant C/T snv 4.0E-06
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.700 0
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: rs727505369
rs727505369
FGFR1
0.925 0.160 8 38424624 missense variant T/C snv
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.700 0
dbSNP: rs727505369
rs727505369
FGFR1
0.925 0.160 8 38424624 missense variant T/C snv
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		0.700 0
dbSNP: rs727505369
rs727505369
FGFR1
0.925 0.160 8 38424624 missense variant T/C snv
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		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: 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: 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: 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: rs727505373
rs727505373
FGFR1
0.925 0.160 8 38429744 missense variant T/C snv
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.700 0
dbSNP: rs727505373
rs727505373
FGFR1
0.925 0.160 8 38429744 missense variant T/C snv
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		0.700 0
dbSNP: rs727505373
rs727505373
FGFR1
0.925 0.160 8 38429744 missense variant T/C snv
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		0.700 0
dbSNP: rs727505376
rs727505376
FGFR1
0.925 0.160 8 38414279 missense variant C/G;T snv
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		0.700 0
dbSNP: rs727505376
rs727505376
FGFR1
0.925 0.160 8 38414279 missense variant C/G;T snv
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		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: rs747842199
rs747842199
FGFR1
1.000 0.160 8 38429694 missense variant C/T snv 2.8E-05 1.4E-05
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder) 		0.700 0