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: rs2961544
rs2961544
12 9984073 3 prime UTR variant G/A snv 0.65; 1.5E-02 0.65
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
dbSNP: rs34183666
rs34183666
12 9957942 intron variant T/C snv 0.31
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
dbSNP: rs544605
rs544605
12 9994108 intron variant T/C snv 0.30
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
dbSNP: rs1242982981
rs1242982981
0.851 0.160 12 9984989 missense variant C/T snv
IgM monoclonal gammopathy of uncertain significance
Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1242982981
rs1242982981
0.851 0.160 12 9984989 missense variant C/T snv
Monoclonal Gammopathy of Undetermined Significance
Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1242982981
rs1242982981
0.851 0.160 12 9984989 missense variant C/T snv
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1242982981
rs1242982981
0.851 0.160 12 9984989 missense variant C/T snv
CUI: C0024419
Disease: Waldenstrom Macroglobulinemia
Waldenstrom Macroglobulinemia
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 1.000 1 2013 2013