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: rs7463447
rs7463447
8 133477919 intron variant A/G;T snv
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
dbSNP: rs760327
rs760327
0.925 8 133490986 intron variant G/C snv 0.59
CUI: C4255374
Disease: Frontal fibrosing alopecia
Frontal fibrosing alopecia
0.700 1.000 1 2019 2019
dbSNP: rs760327
rs760327
0.925 8 133490986 intron variant G/C snv 0.59
Postmenopausal frontal fibrosing alopecia
0.700 1.000 1 2019 2019
dbSNP: rs9643300
rs9643300
8 133490905 intron variant C/T snv 0.60
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
dbSNP: rs1048479
rs1048479
1.000 0.080 8 133461905 synonymous variant C/T snv 0.51 0.47
CUI: C0021400
Disease: Influenza
Influenza
Infections; Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs113350588
rs113350588
1.000 0.080 8 133475740 synonymous variant G/A snv 1.6E-04 1.8E-04
CUI: C0021400
Disease: Influenza
Influenza
Infections; Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs9643297
rs9643297
1.000 0.080 8 133471452 intron variant A/G snv 0.42
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016