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: rs119103284
rs119103284 		1.000 0.080 4 186210586 missense variant G/A snv 3.6E-05 3.5E-05
CUI: C1859486
Disease: BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs121964949
rs121964949 		1.000 0.040 4 186236789 stop gained C/T snv 6.4E-05 4.2E-05
CUI: C0272339
Disease: Prekallikrein deficiency
Prekallikrein deficiency 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121964950
rs121964950 		1.000 0.040 4 186252077 stop gained G/A snv 4.0E-06
CUI: C0272339
Disease: Prekallikrein deficiency
Prekallikrein deficiency 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs146494374
rs146494374 		1.000 0.080 4 186210508 stop gained C/A;G;T snv 4.0E-06; 1.2E-05
CUI: C1859486
Disease: BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs199476184
rs199476184 		1.000 0.080 4 186209087 splice acceptor variant TGACAGCAGGTTACAG/- del
CUI: C1859486
Disease: BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs199476204
rs199476204 		1.000 0.080 4 186209215 stop gained C/T snv 7.0E-06
CUI: C1859486
Disease: BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs199476205
rs199476205 		1.000 0.080 4 186210589 missense variant C/T snv
CUI: C1859486
Disease: BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs797045181
rs797045181 		1.000 0.080 4 186209263 missense variant A/G snv
CUI: C1859486
Disease: BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
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