C1QB, complement C1q B chain, 713

N. diseases: 24; N. variants: 8
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: rs1361922961
rs1361922961 		1.000 1 22659644 splice donor variant G/C;T snv
CUI: C3150902
Disease: C1q DEFICIENCY
C1q DEFICIENCY 		0.700 0
dbSNP: rs34813378
rs34813378 		1.000 1 22661354 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C3150902
Disease: C1q DEFICIENCY
C1q DEFICIENCY 		0.700 0
dbSNP: rs776292843
rs776292843 		1.000 0.080 1 22660991 missense variant G/A snv 1.6E-05 2.1E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs17433222
rs17433222 		1.000 0.040 1 22652153 upstream gene variant G/A snv 0.23
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs291982
rs291982 		1.000 0.040 1 22655913 intron variant C/A snv 0.56
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs631090
rs631090 		0.925 0.120 1 22659910 intron variant T/C snv 0.20
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs631090
rs631090 		0.925 0.120 1 22659910 intron variant T/C snv 0.20
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 < 0.001 1 2011 2011
dbSNP: rs764348361
rs764348361 		1.000 0.080 1 22659553 missense variant G/A snv 4.8E-05 7.0E-06
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs913243
rs913243 		1.000 0.040 1 22653494 intron variant C/A snv 0.43
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 < 0.001 1 2011 2011