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: rs3803915
rs3803915
1.000 0.080 19 2160530 intron variant C/A;T snv
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.800 1.000 1 2015 2015
dbSNP: rs57908212
rs57908212
19 2161322 intron variant T/C snv 0.46
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
0.700 1.000 2 2016 2019
dbSNP: rs12985850
rs12985850
19 2155043 intron variant G/A snv 0.29
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019
dbSNP: rs183203602
rs183203602
19 2154724 intron variant C/A;T snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.700 1.000 1 2019 2019
dbSNP: rs2108825
rs2108825
19 2136516 intron variant T/C;G snv
Corpuscular Hemoglobin Concentration Mean
0.700 1.000 1 2012 2012
dbSNP: rs2159213
rs2159213
19 2136103 intron variant T/C snv 0.50
Corpuscular Hemoglobin Concentration Mean
0.700 1.000 1 2012 2012
dbSNP: rs2238599
rs2238599
19 2140010 intron variant C/T snv 0.50
Corpuscular Hemoglobin Concentration Mean
0.700 1.000 1 2012 2012
dbSNP: rs2238612
rs2238612
19 2149695 intron variant T/C snv 0.50
Corpuscular Hemoglobin Concentration Mean
0.700 1.000 1 2012 2012
dbSNP: rs25673
rs25673
0.925 0.040 19 2109158 missense variant T/C;G snv 0.12; 4.8E-04
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
0.700 1.000 1 2018 2018
dbSNP: rs25673
rs25673
0.925 0.040 19 2109158 missense variant T/C;G snv 0.12; 4.8E-04
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs35917214
rs35917214
19 2135715 intron variant T/G snv 6.4E-02
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019
dbSNP: rs4807203
rs4807203
19 2127273 intron variant A/G snv 0.32
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
0.700 1.000 1 2019 2019
dbSNP: rs57908212
rs57908212
19 2161322 intron variant T/C snv 0.46
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure
0.700 1.000 1 2016 2016
dbSNP: rs57908212
rs57908212
19 2161322 intron variant T/C snv 0.46
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement
0.700 1.000 1 2016 2016
dbSNP: rs7249081
rs7249081
19 2157168 intron variant T/C;G snv
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
0.700 1.000 1 2019 2019
dbSNP: rs7249081
rs7249081
19 2157168 intron variant T/C;G snv
CUI: C0424678
Disease: Lean body mass
Lean body mass
0.700 1.000 1 2019 2019
dbSNP: rs879255646
rs879255646
1.000 19 2102255 frameshift variant CA/- delins
CUI: C4310746
Disease: HERMANSKY-PUDLAK SYNDROME 10
HERMANSKY-PUDLAK SYNDROME 10
0.700 0