PML, promyelocytic leukemia, 5371

N. diseases: 274; 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: rs5742915
rs5742915 		0.925 0.080 15 74044292 missense variant T/C;G snv 0.35; 4.0E-06
CUI: C0029401
Disease: Osteitis Deformans
Osteitis Deformans 		Musculoskeletal Diseases 0.800 1.000 1 2011 2011
dbSNP: rs5742915
rs5742915 		0.925 0.080 15 74044292 missense variant T/C;G snv 0.35; 4.0E-06
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 3 2010 2019
dbSNP: rs743580
rs743580 		15 74035775 missense variant A/C;G snv 0.52
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement 		0.700 1.000 2 2018 2018
dbSNP: rs10851869
rs10851869 		1.000 0.040 15 74038742 intron variant T/C snv 0.45
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome 		Eye Diseases 0.700 1.000 1 2014 2014
dbSNP: rs1550435
rs1550435 		1.000 0.040 15 74039044 intron variant T/C snv 0.45
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome 		Eye Diseases 0.700 1.000 1 2014 2014
dbSNP: rs3784556
rs3784556 		1.000 0.040 15 74039847 intron variant C/A;G;T snv
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome 		Eye Diseases 0.700 1.000 1 2014 2014
dbSNP: rs3784562
rs3784562 		1.000 0.080 15 73998682 intron variant G/A;C snv
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs3825941
rs3825941 		1.000 0.040 15 74025021 non coding transcript exon variant G/A;C snv
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome 		Eye Diseases 0.700 1.000 1 2014 2014
dbSNP: rs5742915
rs5742915 		0.925 0.080 15 74044292 missense variant T/C;G snv 0.35; 4.0E-06
CUI: C1314691
Disease: Age at menarche
Age at menarche 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs5742915
rs5742915 		0.925 0.080 15 74044292 missense variant T/C;G snv 0.35; 4.0E-06
CUI: C1368019
Disease: Paget Disease
Paget Disease 		Neoplasms 0.700 1.000 1 2011 2011
dbSNP: rs5742915
rs5742915 		0.925 0.080 15 74044292 missense variant T/C;G snv 0.35; 4.0E-06
CUI: C0424678
Disease: Lean body mass
Lean body mass 		0.700 1.000 1 2019 2019
dbSNP: rs5742915
rs5742915 		0.925 0.080 15 74044292 missense variant T/C;G snv 0.35; 4.0E-06
CUI: C0005612
Disease: Birth Weight
Birth Weight 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2019 2019
dbSNP: rs5742915
rs5742915 		0.925 0.080 15 74044292 missense variant T/C;G snv 0.35; 4.0E-06
CUI: C0489786
Disease: Height
Height 		0.700 1.000 1 2010 2010
dbSNP: rs7183908
rs7183908 		15 74036852 intron variant T/C snv 0.52
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs8039584
rs8039584 		1.000 0.040 15 74013625 intron variant C/T snv 5.2E-02
CUI: C0154778
Disease: Myopia, Degenerative
Myopia, Degenerative 		Eye Diseases 0.700 1.000 1 2012 2012
dbSNP: rs9479
rs9479 		0.851 0.120 15 74036235 3 prime UTR variant A/G snv 0.50
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs9479
rs9479 		0.851 0.120 15 74036235 3 prime UTR variant A/G snv 0.50
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs138817062
rs138817062 		0.882 0.040 15 74044940 missense variant C/T snv 4.0E-05 7.0E-06
CUI: C0023418
Disease: leukemia
leukemia 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs138817062
rs138817062 		0.882 0.040 15 74044940 missense variant C/T snv 4.0E-05 7.0E-06
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs138817062
rs138817062 		0.882 0.040 15 74044940 missense variant C/T snv 4.0E-05 7.0E-06
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs138817062
rs138817062 		0.882 0.040 15 74044940 missense variant C/T snv 4.0E-05 7.0E-06
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs201524800
rs201524800 		0.925 0.080 15 73994895 missense variant C/T snv 8.0E-04 6.7E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs201524800
rs201524800 		0.925 0.080 15 73994895 missense variant C/T snv 8.0E-04 6.7E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs531642849
rs531642849 		1.000 0.080 15 73998152 missense variant C/A;G;T snv 4.0E-06; 8.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs743582
rs743582 		1.000 0.040 15 74035865 missense variant G/A;C snv 2.8E-05; 0.12
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2009 2009