HOXA9, homeobox A9, 3205

N. diseases: 147; N. variants: 6
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: rs11773804
rs11773804 		7 27167069 intron variant T/A;C;G snv
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs2071243
rs2071243 		7 27168661 non coding transcript exon variant C/T snv 0.39
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs1381537616
rs1381537616 		0.851 0.040 7 27174132 missense variant C/T snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1381537616
rs1381537616 		0.851 0.040 7 27174132 missense variant C/T snv
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1381537616
rs1381537616 		0.851 0.040 7 27174132 missense variant C/T snv
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1381537616
rs1381537616 		0.851 0.040 7 27174132 missense variant C/T snv
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs3801776
rs3801776 		1.000 0.080 7 27165663 intron variant A/G snv 0.73
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs761581039
rs761581039 		1.000 0.120 7 27174226 missense variant G/C;T snv 1.7E-05; 4.3E-06
CUI: C0431664
Disease: Unilateral Cryptorchidism
Unilateral Cryptorchidism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs776428407
rs776428407 		1.000 0.120 7 27174194 missense variant C/A;T snv 4.3E-06; 4.3E-06
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2009 2009