C1S, complement C1s, 716

N. diseases: 43; N. variants: 10
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: rs886040975
rs886040975 		1.000 12 7066526 missense variant T/C snv
CUI: C4310681
Disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 		0.800 1.000 1 2016 2016
dbSNP: rs16933084
rs16933084 		12 7064780 intron variant A/T snv 0.12
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 2 2018 2018
dbSNP: rs10849546
rs10849546 		12 7068900 intron variant G/A snv 0.12
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs11064498
rs11064498 		12 7064203 non coding transcript exon variant A/G snv 0.15
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs11838267
rs11838267 		1.000 0.040 12 7068568 intron variant T/A;C snv 0.12
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs12580543
rs12580543 		12 6992881 intron variant A/C snv 0.12
CUI: C1281901
Disease: Fatty acid measurement
Fatty acid measurement 		0.700 1.000 1 2015 2015
dbSNP: rs60015123
rs60015123 		12 7005597 intron variant T/C snv 0.23
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2016 2016
dbSNP: rs60015123
rs60015123 		12 7005597 intron variant T/C snv 0.23
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2016 2016
dbSNP: rs7962629
rs7962629 		12 7059466 intron variant A/G snv 0.13
CUI: C0030605
Disease: Activated Partial Thromboplastin Time measurement
Activated Partial Thromboplastin Time measurement 		0.700 1.000 1 2018 2018
dbSNP: rs121909582
rs121909582 		1.000 0.080 12 7070184 missense variant C/T snv 1.4E-04 2.0E-04
CUI: C3151078
Disease: Complement Component C1s Deficiency
Complement Component C1s Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 0
dbSNP: rs886040974
rs886040974 		1.000 12 7066591 inframe deletion TGT/- del
CUI: C4310681
Disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 		0.700 0