PRDM6, PR/SET domain 6, 93166

N. diseases: 48; N. variants: 13
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: rs879253872
rs879253872 		1.000 5 123170997 missense variant A/G snv 6.4E-06
CUI: C4310753
Disease: PATENT DUCTUS ARTERIOSUS 3
PATENT DUCTUS ARTERIOSUS 3 		0.800 1.000 1 2016 2016
dbSNP: rs879255278
rs879255278 		1.000 5 123180296 missense variant G/A snv
CUI: C4310753
Disease: PATENT DUCTUS ARTERIOSUS 3
PATENT DUCTUS ARTERIOSUS 3 		0.800 1.000 1 2016 2016
dbSNP: rs879255279
rs879255279 		1.000 5 123099849 missense variant G/C snv
CUI: C4310753
Disease: PATENT DUCTUS ARTERIOSUS 3
PATENT DUCTUS ARTERIOSUS 3 		0.800 1.000 1 2016 2016
dbSNP: rs13359291
rs13359291 		5 123140763 intron variant G/A;C snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 2 2015 2017
dbSNP: rs1008058
rs1008058 		5 123099932 missense variant G/A;T snv 0.17 0.12
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2016 2016
dbSNP: rs10629804
rs10629804 		1.000 0.080 5 123142307 intron variant -/TTCAC delins 0.72
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs13359291
rs13359291 		5 123140763 intron variant G/A;C snv
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2017 2017
dbSNP: rs1422279
rs1422279 		5 123134514 intron variant C/T snv 0.39
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs186749
rs186749 		1.000 0.080 5 123118610 intron variant A/G snv 0.56
CUI: C0002170
Disease: Alopecia
Alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs2546343
rs2546343 		1.000 0.040 5 123098971 intron variant C/A;T snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs555625
rs555625 		5 123117450 intron variant C/T snv 0.90
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs74661587
rs74661587 		5 123121430 intron variant A/G;T snv
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1037630475
rs1037630475 		5 123090099 missense variant C/T snv 1.4E-05 4.2E-05
CUI: C0018816
Disease: Heart Septal Defects
Heart Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs335170
rs335170 		0.925 0.120 5 123146549 intron variant A/C;G;T snv
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs335170
rs335170 		0.925 0.120 5 123146549 intron variant A/C;G;T snv
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2018 2018