ARID3B, AT-rich interaction domain 3B, 10620

N. diseases: 46; N. variants: 5
Disease: Goldenhar Syndrome ×
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: rs10459648
rs10459648 		1.000 0.080 15 74573099 intron variant C/T snv 0.25; 4.0E-06 0.25
CUI: C0265240
Disease: Goldenhar Syndrome
Goldenhar Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2016 2016