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: rs62524728
rs62524728
8 143320168 intron variant A/G;T snv
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019
dbSNP: rs11544484
rs11544484
0.882 0.120 8 143324535 missense variant C/T snv 0.26 0.33
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs11544484
rs11544484
0.882 0.120 8 143324535 missense variant C/T snv 0.26 0.33
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs11544484
rs11544484
0.882 0.120 8 143324535 missense variant C/T snv 0.26 0.33
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2293925
rs2293925
0.925 0.080 8 143310198 missense variant G/A snv 0.51 0.36
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2293925
rs2293925
0.925 0.080 8 143310198 missense variant G/A snv 0.51 0.36
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017