AP4B1-AS1, AP4B1 antisense RNA 1, 100287722

N. diseases: 13; N. variants: 38
Disease: Lupus Erythematosus, Systemic ×
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: rs2476601
rs2476601 		0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.900 0.972 36 2004 2019
dbSNP: rs1217393
rs1217393 		0.851 0.160 1 113891324 intron variant G/A snv 0.42
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1217414
rs1217414 		0.882 0.120 1 113870045 non coding transcript exon variant G/A snv 0.36
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.020 1.000 2 2013 2016
dbSNP: rs33996649
rs33996649 		0.732 0.400 1 113852067 missense variant C/T snv 1.7E-02 1.6E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.020 1.000 2 2011 2017
dbSNP: rs3765598
rs3765598 		1.000 0.080 1 113851841 intron variant C/T snv 0.15
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.020 1.000 2 2013 2016
dbSNP: rs3811021
rs3811021 		1.000 0.080 1 113814041 3 prime UTR variant A/G snv 0.15
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2016 2016