KLKB1, kallikrein B1, 3818

N. diseases: 88; N. variants: 63
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: rs121964952
rs121964952 		1.000 0.040 4 186236819 stop gained G/A;T snv 4.0E-06
CUI: C0272339
Disease: Prekallikrein deficiency
Prekallikrein deficiency 		Hemic and Lymphatic Diseases 0.800 1.000 2 2003 2007
dbSNP: rs3733402
rs3733402 		1.000 0.040 4 186236880 missense variant G/A;C snv 0.54
CUI: C0272339
Disease: Prekallikrein deficiency
Prekallikrein deficiency 		Hemic and Lymphatic Diseases 0.800 1.000 2 2003 2007
dbSNP: rs121964951
rs121964951 		1.000 0.040 4 186257283 missense variant G/A snv 6.8E-04 5.2E-04
CUI: C0272339
Disease: Prekallikrein deficiency
Prekallikrein deficiency 		Hemic and Lymphatic Diseases 0.700 1.000 2 2003 2007
dbSNP: rs3733402
rs3733402 		1.000 0.040 4 186236880 missense variant G/A;C snv 0.54
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 2 2012 2014
dbSNP: rs10582034
rs10582034 		4 186236096 intron variant AG/- delins 0.57
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs11132382
rs11132382 		4 186222648 intron variant T/G snv 0.56
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs12331051
rs12331051 		4 186218653 intron variant C/T snv 0.48
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs13136536
rs13136536 		4 186217309 intron variant C/A;G;T snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs139276089
rs139276089 		4 186239240 intron variant G/A;C snv
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs142201367
rs142201367 		4 186235350 intron variant -/CCTAACTTCATCACCTT;CTAACTTCATCACCTT;TCTAACTT;TCTAACTTCATCACCTT;TTCTAACTTCATCACCTT delins
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs143361672
rs143361672 		4 186236114 intron variant AAAAAA/-;AA;AAA;AAAA;AAAAA;AAAAAAA;AAAAAAAA delins 0.47
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1511801
rs1511801 		4 186229556 intron variant A/T snv 0.59
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1511802
rs1511802 		4 186229652 intron variant T/C snv 0.36
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs186254196
rs186254196 		1.000 0.040 4 186252131 missense variant G/A;T snv 8.0E-06
CUI: C0272339
Disease: Prekallikrein deficiency
Prekallikrein deficiency 		Hemic and Lymphatic Diseases 0.700 1.000 1 2003 2003
dbSNP: rs1912826
rs1912826 		4 186228386 intron variant G/A;C snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1912826
rs1912826 		4 186228386 intron variant G/A;C snv
CUI: C0523677
Disease: Glycine measurement
Glycine measurement 		0.700 1.000 1 2019 2019
dbSNP: rs1912826
rs1912826 		4 186228386 intron variant G/A;C snv
CUI: C0162701
Disease: Polysomnography
Polysomnography 		0.700 1.000 1 2012 2012
dbSNP: rs1912826
rs1912826 		4 186228386 intron variant G/A;C snv
CUI: C1611184
Disease: Calcification of coronary artery
Calcification of coronary artery 		Nutritional and Metabolic Diseases; Cardiovascular Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1973612
rs1973612 		4 186248013 intron variant C/T snv 0.55
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs200357845
rs200357845 		4 186252648 intron variant AATCCCACCACC/-;AATCCCACCACCAATCCCACCACC delins
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2048
rs2048 		4 186226979 intron variant G/T snv 0.56
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2102575
rs2102575 		4 186210350 intron variant G/A snv 0.90
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.700 1.000 1 2012 2012
dbSNP: rs2304595
rs2304595 		1.000 0.040 4 186251126 non coding transcript exon variant G/A snv 0.36
CUI: C0030605
Disease: Activated Partial Thromboplastin Time measurement
Activated Partial Thromboplastin Time measurement 		0.700 1.000 1 2013 2013
dbSNP: rs28671360
rs28671360 		4 186257634 intron variant A/G;T snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3087505
rs3087505 		4 186258332 3 prime UTR variant A/G snv 0.91
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.700 1.000 1 2012 2012