KNG1, kininogen 1, 3827

N. diseases: 279; N. variants: 24
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: rs710446
rs710446 		0.925 0.120 3 186742138 missense variant T/C snv 0.42 0.44
CUI: C0030605
Disease: Activated Partial Thromboplastin Time measurement
Activated Partial Thromboplastin Time measurement 		0.800 1.000 3 2010 2013
dbSNP: rs138610068
rs138610068 		3 186735642 intron variant TTAA/-;TTAATTAA delins 8.9E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1621816
rs1621816 		3 186721384 non coding transcript exon variant T/C snv 0.32
CUI: C0030605
Disease: Activated Partial Thromboplastin Time measurement
Activated Partial Thromboplastin Time measurement 		0.700 1.000 1 2013 2013
dbSNP: rs1624230
rs1624230 		3 186721146 intron variant C/A snv 0.42
CUI: C0030605
Disease: Activated Partial Thromboplastin Time measurement
Activated Partial Thromboplastin Time measurement 		0.700 1.000 1 2013 2013
dbSNP: rs1624569
rs1624569 		3 186732280 intron variant T/C snv 0.38
CUI: C0030605
Disease: Activated Partial Thromboplastin Time measurement
Activated Partial Thromboplastin Time measurement 		0.700 1.000 1 2013 2013
dbSNP: rs2062632
rs2062632 		3 186743392 3 prime UTR variant T/C snv 0.19
CUI: C0030605
Disease: Activated Partial Thromboplastin Time measurement
Activated Partial Thromboplastin Time measurement 		0.700 1.000 1 2013 2013
dbSNP: rs2304456
rs2304456 		0.925 0.120 3 186727263 missense variant T/G snv 0.12 9.3E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs266723
rs266723 		3 186729258 intron variant A/C snv 0.44
CUI: C0030605
Disease: Activated Partial Thromboplastin Time measurement
Activated Partial Thromboplastin Time measurement 		0.700 1.000 1 2013 2013
dbSNP: rs3774292
rs3774292 		3 186715785 intron variant A/C;T snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs3856930
rs3856930 		3 186740533 intron variant C/T snv 0.27
CUI: C0030605
Disease: Activated Partial Thromboplastin Time measurement
Activated Partial Thromboplastin Time measurement 		0.700 1.000 1 2013 2013
dbSNP: rs5029970
rs5029970 		3 186716702 intron variant T/C snv 0.36
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2018 2018
dbSNP: rs5030023
rs5030023 		3 186726855 intron variant G/A snv 0.20
CUI: C0030605
Disease: Activated Partial Thromboplastin Time measurement
Activated Partial Thromboplastin Time measurement 		0.700 1.000 1 2013 2013
dbSNP: rs5030028
rs5030028 		3 186727965 intron variant C/T snv 0.23
CUI: C0030605
Disease: Activated Partial Thromboplastin Time measurement
Activated Partial Thromboplastin Time measurement 		0.700 1.000 1 2013 2013
dbSNP: rs5030044
rs5030044 		3 186731333 intron variant A/G;T snv
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs5030062
rs5030062 		3 186736391 non coding transcript exon variant A/C snv 0.35
CUI: C0030605
Disease: Activated Partial Thromboplastin Time measurement
Activated Partial Thromboplastin Time measurement 		0.700 1.000 1 2013 2013
dbSNP: rs5030081
rs5030081 		3 186741121 intron variant G/A snv 0.43
CUI: C0030605
Disease: Activated Partial Thromboplastin Time measurement
Activated Partial Thromboplastin Time measurement 		0.700 1.000 1 2018 2018
dbSNP: rs5030091
rs5030091 		3 186743088 3 prime UTR variant T/C snv 0.42
CUI: C0030605
Disease: Activated Partial Thromboplastin Time measurement
Activated Partial Thromboplastin Time measurement 		0.700 1.000 1 2013 2013
dbSNP: rs698078
rs698078 		3 186741438 intron variant A/G snv 0.44
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs121918131
rs121918131 		1.000 0.040 3 186727258 stop gained C/G;T snv 4.0E-06; 8.0E-06
CUI: C1856719
Disease: Kininogen Deficiency, Total
Kininogen Deficiency, Total 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs797044429
rs797044429 		1.000 0.040 3 186741888 frameshift variant A/- delins
CUI: C0272340
Disease: High molecular weight kininogen deficiency
High molecular weight kininogen deficiency 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs797044430
rs797044430 		1.000 0.040 3 186741608 frameshift variant -/C delins
CUI: C0272340
Disease: High molecular weight kininogen deficiency
High molecular weight kininogen deficiency 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs869320718
rs869320718 		1.000 0.040 3 186740984 intron variant TTGTTGTTGTTGTTGTTTGTTTTTTGT/GGTGGTGGTGGTGGTGGTTTGTTTTTGG delins
CUI: C0272340
Disease: High molecular weight kininogen deficiency
High molecular weight kininogen deficiency 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs2304456
rs2304456 		0.925 0.120 3 186727263 missense variant T/G snv 0.12 9.3E-02
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.010 < 0.001 1 2015 2015
dbSNP: rs2304456
rs2304456 		0.925 0.120 3 186727263 missense variant T/G snv 0.12 9.3E-02
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs2304456
rs2304456 		0.925 0.120 3 186727263 missense variant T/G snv 0.12 9.3E-02
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.010 1.000 1 2018 2018