AP4B1-AS1, AP4B1 antisense RNA 1, 100287722

N. diseases: 13; N. variants: 38
Disease: Systemic Scleroderma ×
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: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.760 0.857 7 2006 2019
dbSNP: rs1217393
rs1217393 		0.851 0.160 1 113891324 intron variant G/A snv 0.42
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.700 1.000 1 2019 2019
dbSNP: rs33996649
rs33996649 		0.732 0.400 1 113852067 missense variant C/T snv 1.7E-02 1.6E-02
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.010 < 0.001 1 2011 2011