Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28491433
rs28491433
8 16193362 intron variant C/G snv 0.19
CUI: C0202202
Disease: Protein measurement
Protein measurement
0.700 1.000 1 2013 2013
dbSNP: rs34722146
rs34722146
8 16166168 intron variant T/C snv
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.700 1.000 1 2012 2012
dbSNP: rs34722146
rs34722146
8 16166168 intron variant T/C snv
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs34722146
rs34722146
8 16166168 intron variant T/C snv
High density lipoprotein measurement
0.700 1.000 1 2012 2012
dbSNP: rs35525373
rs35525373
8 16166664 intron variant C/G snv 3.3E-03
High density lipoprotein measurement
0.700 1.000 1 2012 2012
dbSNP: rs35525373
rs35525373
8 16166664 intron variant C/G snv 3.3E-03
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs387906645
rs387906645
1.000 8 16164122 missense variant G/C snv 3.6E-05 2.8E-05
BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCINOMA
0.700 0
dbSNP: rs41341748
rs41341748
0.827 0.120 8 16155085 stop gained G/A;C snv 8.3E-03; 2.8E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 0