ITGA8, integrin subunit alpha 8, 8516

N. diseases: 46; N. variants: 9
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: rs374664941
rs374664941
1.000 0.120 10 15644210 missense variant C/T snv 2.4E-05 2.1E-05
CUI: C1619700
Disease: RENAL ADYSPLASIA
RENAL ADYSPLASIA
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 0
dbSNP: rs10906923
rs10906923
1.000 0.040 10 15527599 intron variant C/A;T snv
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs4748185
rs4748185
1.000 0.080 10 15612888 intron variant T/C snv 0.89
CUI: C0004096
Disease: Asthma
Asthma
Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs587777281
rs587777281
1.000 0.120 10 15672662 missense variant G/A;T snv 2.0E-05
CUI: C1619700
Disease: RENAL ADYSPLASIA
RENAL ADYSPLASIA
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2014 2014
dbSNP: rs7077361
rs7077361
1.000 0.040 10 15519544 intron variant T/C snv 0.11
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs587777279
rs587777279
1.000 0.120 10 15531048 splice donor variant A/G snv
CUI: C1619700
Disease: RENAL ADYSPLASIA
RENAL ADYSPLASIA
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs587777280
rs587777280
1.000 0.120 10 15607815 frameshift variant ACCTC/- delins
CUI: C1619700
Disease: RENAL ADYSPLASIA
RENAL ADYSPLASIA
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs748467820
rs748467820
1.000 0.120 10 15684035 missense variant G/A;T snv 4.0E-06; 1.6E-05
CUI: C1619700
Disease: RENAL ADYSPLASIA
RENAL ADYSPLASIA
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs2298033
rs2298033
1.000 0.040 10 15607711 missense variant G/A snv 3.4E-02 2.8E-02
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
Mental Disorders 0.010 1.000 1 2013 2013