SPP1, secreted phosphoprotein 1, 6696

N. diseases: 824; N. variants: 13
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: rs1126616
rs1126616
0.827 0.280 4 87982701 synonymous variant C/G;T snv 0.32 0.26
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
Skin and Connective Tissue Diseases; Immune System Diseases 0.020 1.000 2 2002 2019
dbSNP: rs1370031102
rs1370031102
1.000 0.080 4 87982700 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
Skin and Connective Tissue Diseases; Immune System Diseases 0.020 0.500 2 2002 2017
dbSNP: rs9138
rs9138
0.776 0.360 4 87983190 3 prime UTR variant A/C;T snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2013 2013