HOXA11, homeobox A11, 3207

N. diseases: 111; N. variants: 5
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: rs6461992
rs6461992 		1.000 0.120 7 27181212 3 prime UTR variant A/G snv 0.93
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 2 2017 2018
dbSNP: rs7801581
rs7801581 		7 27184152 intron variant C/T snv 0.24
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 2 2015 2018
dbSNP: rs4722669
rs4722669 		7 27187169 intron variant C/G;T snv 5.7E-02
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs6461992
rs6461992 		1.000 0.120 7 27181212 3 prime UTR variant A/G snv 0.93
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs6461992
rs6461992 		1.000 0.120 7 27181212 3 prime UTR variant A/G snv 0.93
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs6461992
rs6461992 		1.000 0.120 7 27181212 3 prime UTR variant A/G snv 0.93
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs7801581
rs7801581 		7 27184152 intron variant C/T snv 0.24
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement 		0.700 1.000 1 2017 2017
dbSNP: rs7801581
rs7801581 		7 27184152 intron variant C/T snv 0.24
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs7801581
rs7801581 		7 27184152 intron variant C/T snv 0.24
CUI: C0037369
Disease: Smoking
Smoking 		Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs7801581
rs7801581 		7 27184152 intron variant C/T snv 0.24
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs864321666
rs864321666 		1.000 0.120 7 27182866 frameshift variant T/- delins
CUI: C4551975
Disease: RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1
RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs17427875
rs17427875 		0.925 0.120 7 27185939 non coding transcript exon variant A/T snv 0.15
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs17427875
rs17427875 		0.925 0.120 7 27185939 non coding transcript exon variant A/T snv 0.15
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs6461992
rs6461992 		1.000 0.120 7 27181212 3 prime UTR variant A/G snv 0.93
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 2018 2018