FGF8, fibroblast growth factor 8, 2253

N. diseases: 212; N. variants: 23
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137852659
rs137852659 		1.000 10 101775769 missense variant G/T snv
CUI: C3552574
Disease: HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA 		0.800 1.000 2 2008 2013
dbSNP: rs137852660
rs137852660 		0.882 0.160 10 101775209 missense variant G/A snv 1.1E-03 8.0E-04
CUI: C3552574
Disease: HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA 		0.800 1.000 2 2008 2013
dbSNP: rs137852661
rs137852661 		1.000 10 101775168 missense variant A/G snv
CUI: C3552574
Disease: HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA 		0.800 1.000 2 2008 2013
dbSNP: rs137852662
rs137852662 		1.000 10 101774771 missense variant T/C snv
CUI: C3552574
Disease: HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA 		0.800 1.000 2 2008 2013
dbSNP: rs137852663
rs137852663 		1.000 10 101771528 stop gained G/A;C snv 4.0E-06 1.4E-05
CUI: C3552574
Disease: HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA 		0.800 1.000 2 2008 2013
dbSNP: rs137852664
rs137852664 		1.000 10 101770378 missense variant G/A;T snv 2.6E-04; 4.4E-06
CUI: C3552574
Disease: HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA 		0.700 1.000 2 2008 2013
dbSNP: rs2735421
rs2735421 		10 101781259 upstream gene variant T/G snv 0.65
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 2 2018 2019
dbSNP: rs2735421
rs2735421 		10 101781259 upstream gene variant T/G snv 0.65
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs606231407
rs606231407 		1.000 0.040 10 101770613 missense variant C/T snv 1.6E-05
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		Endocrine System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs606231407
rs606231407 		1.000 0.040 10 101770613 missense variant C/T snv 1.6E-05
CUI: C2364082
Disease: Sense of smell impaired
Sense of smell impaired 		Nervous System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs606231408
rs606231408 		1.000 10 101774832 synonymous variant G/C snv 9.6E-05 2.8E-05
CUI: C3552574
Disease: HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA 		0.700 1.000 1 2013 2013
dbSNP: rs139565972
rs139565972 		1.000 0.120 10 101770595 missense variant C/A;T snv 6.0E-05 7.7E-05
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1490604080
rs1490604080 		1.000 0.120 10 101771462 splice donor variant C/T snv
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554834303
rs1554834303 		1.000 10 101770434 frameshift variant -/CC delins
CUI: C3552574
Disease: HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA 		0.700 0
dbSNP: rs1554834321
rs1554834321 		1.000 0.120 10 101770491 inframe deletion GCCGGCCCTTGCGGG/- delins
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554834889
rs1554834889 		1.000 0.120 10 101774912 missense variant C/G snv
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554834892
rs1554834892 		1.000 0.120 10 101774913 splice acceptor variant C/T snv
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs61730334
rs61730334 		1.000 0.120 10 101771509 missense variant G/A;C snv 8.0E-06
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs876661328
rs876661328 		1.000 0.120 10 101774752 missense variant G/T snv
CUI: C0751617
Disease: Semilobar Holoprosencephaly
Semilobar Holoprosencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs876661329
rs876661329 		0.925 0.120 10 101771551 missense variant G/A snv
CUI: C0751617
Disease: Semilobar Holoprosencephaly
Semilobar Holoprosencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs876661329
rs876661329 		0.925 0.120 10 101771551 missense variant G/A snv
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs876661330
rs876661330 		0.882 0.160 10 101771522 stop gained G/A snv 4.0E-06
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs876661330
rs876661330 		0.882 0.160 10 101771522 stop gained G/A snv 4.0E-06
CUI: C3552574
Disease: HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA 		0.700 0
dbSNP: rs876661331
rs876661331 		1.000 0.120 10 101770447 missense variant C/T snv
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1257891978
rs1257891978 		1.000 0.120 10 101770499 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2015 2015