AHI1, Abelson helper integration site 1, 54806

N. diseases: 18; N. variants: 68
Disease: Familial aplasia of the vermis ×
Source: CURATED ×
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: rs777668842
rs777668842 		0.925 0.240 6 135455811 stop gained G/A;C snv 6.5E-05; 4.3E-06
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 1.000 3 2006 2015
dbSNP: rs371637724
rs371637724 		0.925 0.240 6 135448400 stop gained G/A;C;T snv 1.6E-05; 4.0E-06
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 1.000 1 2015 2015
dbSNP: rs121434351
rs121434351 		0.925 0.240 6 135433125 missense variant C/T snv 2.8E-05 2.8E-05
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs1276908141
rs1276908141 		1.000 0.160 6 135433187 synonymous variant C/T snv 4.0E-06
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs1554208431
rs1554208431 		1.000 0.160 6 135453426 frameshift variant A/- delins
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs1554214237
rs1554214237 		1.000 0.160 6 135463220 frameshift variant T/- del
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs1554350503
rs1554350503 		1.000 0.160 6 135447109 frameshift variant -/T delins
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs797045223
rs797045223 		0.925 0.240 6 135442633 stop gained C/A snv
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs905262279
rs905262279 		1.000 0.160 6 135448418 stop gained AA/- del 4.0E-06 7.0E-06
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases 0.700 0