KIAA0556, KIAA0556, 23247

N. diseases: 60; N. variants: 4
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: rs864309712
rs864309712 		0.925 0.160 16 27749634 stop gained C/T 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 1.000 1 2015 2015
dbSNP: rs9921758
rs9921758 		0.925 0.040 16 27689083 intron variant G/A snv 8.3E-03
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs9921758
rs9921758 		0.925 0.040 16 27689083 intron variant G/A snv 8.3E-03
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs1555497891
rs1555497891 		1.000 16 27775055 frameshift variant A/- del
CUI: C4084843
Disease: JOUBERT SYNDROME 26
JOUBERT SYNDROME 26 		0.700 0
dbSNP: rs864309712
rs864309712 		0.925 0.160 16 27749634 stop gained C/T snv
CUI: C4084843
Disease: JOUBERT SYNDROME 26
JOUBERT SYNDROME 26 		0.700 0
dbSNP: rs12930749
rs12930749 		16 27716458 non coding transcript exon variant A/G snv 0.23
CUI: C0035204
Disease: Respiration Disorders
Respiration Disorders 		Respiratory Tract Diseases 0.010 1.000 1 2019 2019