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: rs10800397
rs10800397
1.000 0.120 1 162267300 intron variant C/G;T snv
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs10918602
rs10918602
1 162067910 upstream gene variant T/C snv 0.25
QT interval feature (observable entity)
0.700 1.000 1 2012 2012
dbSNP: rs10919021
rs10919021
1 162265600 intron variant C/T snv 0.97
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.700 1.000 1 2012 2012
dbSNP: rs12027785
rs12027785
1 162211355 intron variant T/A snv 0.27
QT interval feature (observable entity)
0.700 1.000 1 2012 2012
dbSNP: rs12116744
rs12116744
1 162210666 intron variant G/A snv 0.27
QT interval feature (observable entity)
0.700 1.000 1 2012 2012
dbSNP: rs12123267
rs12123267
1 162229561 intron variant C/T snv 0.27
QT interval feature (observable entity)
0.700 1.000 1 2012 2012
dbSNP: rs12567315
rs12567315
1 162196856 intron variant G/A snv 0.27
QT interval feature (observable entity)
0.700 1.000 1 2012 2012
dbSNP: rs1337068
rs1337068
1 162163356 intron variant G/A snv 0.96
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.700 1.000 1 2012 2012
dbSNP: rs1510291
rs1510291
1 162358271 intron variant C/T snv 3.5E-02
High density lipoprotein measurement
0.700 1.000 1 2012 2012
dbSNP: rs1510291
rs1510291
1 162358271 intron variant C/T snv 3.5E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs16860953
rs16860953
1 162364127 5 prime UTR variant G/A snv 2.1E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs16860953
rs16860953
1 162364127 5 prime UTR variant G/A snv 2.1E-02
Low density lipoprotein cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs1912439
rs1912439
1 162324355 intron variant A/G snv 0.98
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs1912439
rs1912439
1 162324355 intron variant A/G snv 0.98
High density lipoprotein measurement
0.700 1.000 1 2012 2012
dbSNP: rs2661814
rs2661814
1 162350216 intron variant G/A snv 0.95
Low density lipoprotein cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs2661814
rs2661814
1 162350216 intron variant G/A snv 0.95
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs2819325
rs2819325
1 162313721 intron variant G/A;C snv
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs2819325
rs2819325
1 162313721 intron variant G/A;C snv
High density lipoprotein measurement
0.700 1.000 1 2012 2012
dbSNP: rs2819325
rs2819325
1 162313721 intron variant G/A;C snv
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs370911
rs370911
1 162323515 intron variant A/G snv 0.99
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs370911
rs370911
1 162323515 intron variant A/G snv 0.99
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs370911
rs370911
1 162323515 intron variant A/G snv 0.99
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.700 1.000 1 2012 2012
dbSNP: rs370911
rs370911
1 162323515 intron variant A/G snv 0.99
High density lipoprotein measurement
0.700 1.000 1 2012 2012
dbSNP: rs370911
rs370911
1 162323515 intron variant A/G snv 0.99
Low density lipoprotein cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs370911
rs370911
1 162323515 intron variant A/G snv 0.99
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement
0.700 1.000 1 2012 2012