HOXA2, homeobox A2, 3199

N. diseases: 26; N. variants: 3
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: rs119489104
rs119489104 		1.000 0.240 7 27101301 missense variant G/T snv
CUI: C2676772
Disease: Microtia, Hearing Impairment, And Cleft Palate
Microtia, Hearing Impairment, And Cleft Palate 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.800 0
dbSNP: rs1554334301
rs1554334301 		1.000 7 27101187 stop gained C/A snv
CUI: C4694002
Disease: MICROTIA WITHOUT HEARING IMPAIRMENT
MICROTIA WITHOUT HEARING IMPAIRMENT 		0.700 0
dbSNP: rs398122360
rs398122360 		1.000 7 27101154 stop gained G/A snv
CUI: C3808166
Disease: MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT
MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT 		0.700 0