ZNF423, zinc finger protein 423, 23090

N. diseases: 97; N. variants: 16
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: rs2047937
rs2047937
0.925 0.120 16 49830880 intron variant C/T snv 0.50
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
0.700 1.000 2 2018 2019
dbSNP: rs10468291
rs10468291
16 49734135 intron variant C/A snv 0.64
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
0.700 1.000 1 2018 2018
dbSNP: rs2047937
rs2047937
0.925 0.120 16 49830880 intron variant C/T snv 0.50
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors
Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs2047937
rs2047937
0.925 0.120 16 49830880 intron variant C/T snv 0.50
CUI: C0037369
Disease: Smoking
Smoking
Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs28633718
rs28633718
16 49850619 intron variant C/A;G snv
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
0.700 1.000 1 2019 2019
dbSNP: rs34050011
rs34050011
16 49834602 intron variant C/A snv 0.40
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
0.700 1.000 1 2019 2019
dbSNP: rs34214571
rs34214571
16 49637266 missense variant T/C snv 3.1E-02 2.8E-02
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019
dbSNP: rs34294937
rs34294937
16 49850016 intron variant T/A snv 0.16
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.700 1.000 1 2019 2019
dbSNP: rs59923016
rs59923016
1.000 0.120 16 49765545 intron variant CA/-;CACA;CACACA;CACACACA;CACACACACA delins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs7197830
rs7197830
16 49755426 intron variant A/C snv 0.74
CUI: C0596887
Disease: mathematical ability
mathematical ability
0.700 1.000 1 2018 2018
dbSNP: rs7403957
rs7403957
16 49775652 intron variant A/G snv 0.73
CUI: C0596887
Disease: mathematical ability
mathematical ability
0.700 1.000 1 2018 2018
dbSNP: rs7404754
rs7404754
16 49734010 intron variant C/T snv 0.61
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.700 1.000 1 2019 2019
dbSNP: rs933561
rs933561
16 49840765 intron variant A/G snv 0.24
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019
dbSNP: rs9921634
rs9921634
0.925 0.040 16 49488523 3 prime UTR variant G/C snv 7.4E-02
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs9921634
rs9921634
0.925 0.040 16 49488523 3 prime UTR variant G/C snv 7.4E-02
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
0.700 1.000 1 2018 2018
dbSNP: rs200585917
rs200585917
1.000 16 49636414 missense variant G/A;T snv 1.8E-04
CUI: C3539071
Disease: NEPHRONOPHTHISIS 14
NEPHRONOPHTHISIS 14
0.700 0
dbSNP: rs548986682
rs548986682
16 49635782 stop gained C/A;T snv 3.2E-05
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
0.700 0
dbSNP: rs745597535
rs745597535
16 49730782 missense variant C/T snv 6.4E-05 2.8E-05
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
0.700 0
dbSNP: rs2047937
rs2047937
0.925 0.120 16 49830880 intron variant C/T snv 0.50
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2047937
rs2047937
0.925 0.120 16 49830880 intron variant C/T snv 0.50
CUI: C0028754
Disease: Obesity
Obesity
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs9940645
rs9940645
0.925 0.080 16 49797677 intron variant A/G snv 0.54
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs9940645
rs9940645
0.925 0.080 16 49797677 intron variant A/G snv 0.54
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017