HOXC6, homeobox C6, 3223

N. diseases: 80; N. variants: 14
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: rs10876528
rs10876528
12 54027692 intron variant C/A;G snv
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
0.700 1.000 1 2019 2019
dbSNP: rs10876528
rs10876528
12 54027692 intron variant C/A;G snv
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement
0.700 1.000 1 2017 2017
dbSNP: rs12319419
rs12319419
12 54026992 intron variant G/C snv 0.30
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption
Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs12319419
rs12319419
12 54026992 intron variant G/C snv 0.30
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.700 1.000 1 2018 2018
dbSNP: rs3803042
rs3803042
12 53994163 non coding transcript exon variant G/A snv 0.41
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
0.700 1.000 1 2019 2019
dbSNP: rs3803042
rs3803042
12 53994163 non coding transcript exon variant G/A snv 0.41
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
0.700 1.000 1 2019 2019
dbSNP: rs4759316
rs4759316
12 53994689 non coding transcript exon variant G/A;T snv
CUI: C0042834
Disease: Vital capacity
Vital capacity
0.700 1.000 1 2019 2019
dbSNP: rs4759319
rs4759319
12 54030947 intron variant G/C;T snv
CUI: C1306620
Disease: Systolic blood pressure measurement
Systolic blood pressure measurement
0.700 1.000 1 2018 2018
dbSNP: rs4759319
rs4759319
12 54030947 intron variant G/C;T snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.700 1.000 1 2018 2018
dbSNP: rs4759319
rs4759319
12 54030947 intron variant G/C;T snv
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption
Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs4759319
rs4759319
12 54030947 intron variant G/C;T snv
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure
0.700 1.000 1 2018 2018
dbSNP: rs7308105
rs7308105
12 54030339 3 prime UTR variant T/C snv 0.38
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption
Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs736825
rs736825
12 54023792 intron variant C/G;T snv
CUI: C0177804
Disease: Bone Mineral Density Test
Bone Mineral Density Test
0.700 1.000 1 2012 2012
dbSNP: rs736825
rs736825
12 54023792 intron variant C/G;T snv
CUI: C0005938
Disease: Bone Density
Bone Density
0.700 1.000 1 2012 2012
dbSNP: rs754133
rs754133
12 54025136 intron variant G/A;C snv
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors
Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs754133
rs754133
12 54025136 intron variant G/A;C snv
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement
0.700 1.000 1 2017 2017
dbSNP: rs754133
rs754133
12 54025136 intron variant G/A;C snv
CUI: C0037369
Disease: Smoking
Smoking
Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs2241820
rs2241820
1.000 0.040 12 54000713 synonymous variant C/A;T snv 0.59
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs34079606
rs34079606
1.000 0.040 12 54000500 synonymous variant C/T snv 2.0E-02 1.8E-02
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs185070757
rs185070757
0.925 0.080 12 53991774 mature miRNA variant T/G snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs185070757
rs185070757
0.925 0.080 12 53991774 mature miRNA variant T/G snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs35010275
rs35010275
0.925 0.080 12 53991008 intron variant G/A;C snv
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs35010275
rs35010275
0.925 0.080 12 53991008 intron variant G/A;C snv
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs12304647
rs12304647
0.807 0.160 12 53991163 intron variant A/C snv 0.26
CUI: C1623038
Disease: Cirrhosis
Cirrhosis
Pathological Conditions, Signs and Symptoms 0.020 1.000 2 2014 2016
dbSNP: rs12304647
rs12304647
0.807 0.160 12 53991163 intron variant A/C snv 0.26
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.020 1.000 2 2014 2016