GJA8, gap junction protein alpha 8, 2703

N. diseases: 82; N. variants: 21
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: rs121434643
rs121434643 		0.851 0.200 1 147908094 missense variant G/A;C snv
CUI: C1861828
Disease: Cataract, Zonular Pulverulent 1
Cataract, Zonular Pulverulent 1 		Eye Diseases 0.800 1.000 10 1998 2013
dbSNP: rs80358200
rs80358200 		1.000 0.040 1 147908217 missense variant C/T snv
CUI: C1861828
Disease: Cataract, Zonular Pulverulent 1
Cataract, Zonular Pulverulent 1 		Eye Diseases 0.800 0
dbSNP: rs80358201
rs80358201 		0.925 0.200 1 147908097 missense variant G/A snv
CUI: C1861828
Disease: Cataract, Zonular Pulverulent 1
Cataract, Zonular Pulverulent 1 		Eye Diseases 0.800 0
dbSNP: rs80358203
rs80358203 		1.000 0.040 1 147908023 missense variant G/C snv
CUI: C1861828
Disease: Cataract, Zonular Pulverulent 1
Cataract, Zonular Pulverulent 1 		Eye Diseases 0.800 0
dbSNP: rs80358204
rs80358204 		1.000 0.040 1 147908086 missense variant T/A snv
CUI: C1861828
Disease: Cataract, Zonular Pulverulent 1
Cataract, Zonular Pulverulent 1 		Eye Diseases 0.800 0
dbSNP: rs80358205
rs80358205 		0.925 0.080 1 147908548 missense variant G/A snv
CUI: C1861828
Disease: Cataract, Zonular Pulverulent 1
Cataract, Zonular Pulverulent 1 		Eye Diseases 0.800 0
dbSNP: rs864309688
rs864309688 		0.882 0.200 1 147908089 missense variant G/C snv 7.0E-06
CUI: C1861828
Disease: Cataract, Zonular Pulverulent 1
Cataract, Zonular Pulverulent 1 		Eye Diseases 0.700 1.000 4 2008 2016
dbSNP: rs1553242554
rs1553242554 		1 147908091 missense variant G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 3 2010 2017
dbSNP: rs864309703
rs864309703 		1.000 0.200 1 147908106 missense variant G/A;C;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 3 2010 2017
dbSNP: rs864309677
rs864309677 		1.000 0.200 1 147908074 missense variant C/T snv
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs864309684
rs864309684 		1.000 0.200 1 147908040 frameshift variant -/T delins
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs864309688
rs864309688 		0.882 0.200 1 147908089 missense variant G/C snv 7.0E-06
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs864309703
rs864309703 		1.000 0.200 1 147908106 missense variant G/A;C;T snv
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1114167309
rs1114167309 		1.000 0.200 1 147908028 missense variant T/C snv
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1114167310
rs1114167310 		1.000 0.200 1 147908439 missense variant G/A snv
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs397515627
rs397515627 		1.000 0.040 1 147908521 missense variant C/T snv
CUI: C1861828
Disease: Cataract, Zonular Pulverulent 1
Cataract, Zonular Pulverulent 1 		Eye Diseases 0.700 0
dbSNP: rs45619342
rs45619342 		1.000 0.040 1 147908782 missense variant C/T snv
CUI: C1861828
Disease: Cataract, Zonular Pulverulent 1
Cataract, Zonular Pulverulent 1 		Eye Diseases 0.700 0
dbSNP: rs80358205
rs80358205 		0.925 0.080 1 147908548 missense variant G/A snv
CUI: C0266544
Disease: Microcornea
Microcornea 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121434643
rs121434643 		0.851 0.200 1 147908094 missense variant G/A;C snv
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases 0.030 1.000 3 2011 2017
dbSNP: rs121434643
rs121434643 		0.851 0.200 1 147908094 missense variant G/A;C snv
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract 		Eye Diseases 0.010 1.000 1 2011 2011
dbSNP: rs121434643
rs121434643 		0.851 0.200 1 147908094 missense variant G/A;C snv
CUI: C1112705
Disease: Nuclear non-senile cataract
Nuclear non-senile cataract 		Eye Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2132397
rs2132397 		0.925 0.120 1 147909431 downstream gene variant A/G snv 0.17
CUI: C0271160
Disease: Cortical cataract
Cortical cataract 		Eye Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2132397
rs2132397 		0.925 0.120 1 147909431 downstream gene variant A/G snv 0.17
CUI: C0001857
Disease: AIDS related complex
AIDS related complex 		Infections; Immune System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs4950495
rs4950495 		1.000 0.040 1 147904536 upstream gene variant C/T snv 0.21
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2007 2007
dbSNP: rs587654743
rs587654743 		1.000 0.200 1 147908787 missense variant T/C snv 4.0E-06
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015