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: rs1224499130
rs1224499130
1 58782620 missense variant C/A snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1224499130
rs1224499130
1 58782620 missense variant C/A snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs3748814
rs3748814
1.000 0.080 1 58783896 5 prime UTR variant G/A snv 6.4E-04
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs11688
rs11688
1.000 0.080 1 58782321 synonymous variant C/T snv 5.3E-02 9.7E-02
CUI: C0006271
Disease: Bronchiolitis
Bronchiolitis
Infections; Respiratory Tract Diseases 0.010 1.000 1 2007 2007
dbSNP: rs2760501
rs2760501
1.000 0.080 1 58785425 intron variant T/G snv 0.29
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs4646999
rs4646999
1.000 0.080 1 58784780 upstream gene variant A/G snv 0.56
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011