F12, coagulation factor XII, 2161

N. diseases: 87; N. variants: 22
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: rs118204456
rs118204456 		0.851 0.200 5 177404231 missense variant G/C;T snv 4.3E-06
CUI: C1857728
Disease: Hereditary Angioedema Type III
Hereditary Angioedema Type III 		Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases 0.830 1.000 3 2009 2018
dbSNP: rs1801020
rs1801020 		1.000 0.040 5 177409531 5 prime UTR variant A/G snv 0.65 0.67
CUI: C0030605
Disease: Activated Partial Thromboplastin Time measurement
Activated Partial Thromboplastin Time measurement 		0.800 1.000 2 2013 2018
dbSNP: rs118204456
rs118204456 		0.851 0.200 5 177404231 missense variant G/C;T snv 4.3E-06
CUI: C0019243
Disease: Angioedemas, Hereditary
Angioedemas, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases 0.750 1.000 10 2006 2020
dbSNP: rs17876031
rs17876031 		5 177404118 non coding transcript exon variant A/G;T snv 0.54; 1.5E-05
CUI: C0883409
Disease: Cardiac troponin I measurement
Cardiac troponin I measurement 		0.700 1.000 1 2019 2019
dbSNP: rs17876032
rs17876032 		5 177403626 non coding transcript exon variant G/A;C;T snv 0.52; 6.2E-04; 1.8E-04
CUI: C0030605
Disease: Activated Partial Thromboplastin Time measurement
Activated Partial Thromboplastin Time measurement 		0.700 1.000 1 2013 2013
dbSNP: rs17876044
rs17876044 		5 177406361 intron variant T/C snv 2.1E-02
CUI: C1629609
Disease: Age at menopause
Age at menopause 		0.700 1.000 1 2019 2019
dbSNP: rs1801020
rs1801020 		1.000 0.040 5 177409531 5 prime UTR variant A/G snv 0.65 0.67
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1801020
rs1801020 		1.000 0.040 5 177409531 5 prime UTR variant A/G snv 0.65 0.67
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1801020
rs1801020 		1.000 0.040 5 177409531 5 prime UTR variant A/G snv 0.65 0.67
CUI: C2697764
Disease: Interleukin 16 Measurement
Interleukin 16 Measurement 		0.700 1.000 1 2017 2017
dbSNP: rs1801020
rs1801020 		1.000 0.040 5 177409531 5 prime UTR variant A/G snv 0.65 0.67
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2013 2013
dbSNP: rs1801020
rs1801020 		1.000 0.040 5 177409531 5 prime UTR variant A/G snv 0.65 0.67
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs183643295
rs183643295 		1.000 0.080 5 177404082 missense variant C/G snv 3.1E-03 1.1E-03
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 1 2011 2011
dbSNP: rs34097461
rs34097461 		5 177410301 intron variant TTTT/-;T;TT;TTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTTTTTT delins 0.52
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs7381103
rs7381103 		5 177411311 intron variant C/G snv 0.11
CUI: C0030605
Disease: Activated Partial Thromboplastin Time measurement
Activated Partial Thromboplastin Time measurement 		0.700 1.000 1 2013 2013
dbSNP: rs1157280571
rs1157280571 		1.000 0.080 5 177402372 missense variant A/T snv 7.0E-06
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs118204454
rs118204454 		1.000 0.080 5 177403994 missense variant C/G;T snv 4.4E-06
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs118204454
rs118204454 		1.000 0.080 5 177403994 missense variant C/G;T snv 4.4E-06
CUI: C4017222
Disease: FACTOR XII (LOCARNO) PHENOTYPE
FACTOR XII (LOCARNO) PHENOTYPE 		0.700 0
dbSNP: rs118204455
rs118204455 		1.000 0.080 5 177406019 missense variant T/C snv 7.0E-06
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs118204456
rs118204456 		0.851 0.200 5 177404231 missense variant G/C;T snv 4.3E-06
CUI: C0311468
Disease: Increased bilirubin level (finding)
Increased bilirubin level (finding) 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs118204456
rs118204456 		0.851 0.200 5 177404231 missense variant G/C;T snv 4.3E-06
CUI: C0002994
Disease: Angioedema
Angioedema 		Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs118204456
rs118204456 		0.851 0.200 5 177404231 missense variant G/C;T snv 4.3E-06
CUI: C0042109
Disease: Urticaria
Urticaria 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 0
dbSNP: rs118204456
rs118204456 		0.851 0.200 5 177404231 missense variant G/C;T snv 4.3E-06
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs118204456
rs118204456 		0.851 0.200 5 177404231 missense variant G/C;T snv 4.3E-06
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.700 0
dbSNP: rs1554097246
rs1554097246 		1.000 0.120 5 177404172 splice donor variant CTTCCCCCCCCCACTTCCTAACCTCCCGGGGTCTGGGACTGAGGCGGGGTCCGGGTCGTGGGCTGAGGCTTC/- delins
CUI: C1857728
Disease: Hereditary Angioedema Type III
Hereditary Angioedema Type III 		Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs199988476
rs199988476 		1.000 0.080 5 177402460 splice acceptor variant C/A;G;T snv 3.0E-05; 4.0E-04
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0