ITGA8, integrin subunit alpha 8, 8516

N. diseases: 46; N. variants: 9
Disease: RENAL ADYSPLASIA ×
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: 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: 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