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: rs16929368
rs16929368 		12 2414606 intron variant T/A;C snv
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 2 2018 2019
dbSNP: rs2283274
rs2283274 		12 2075300 intron variant G/C snv 0.21
CUI: C1821417
Disease: RESTING HEART RATE
RESTING HEART RATE 		0.700 1.000 2 2016 2018
dbSNP: rs1006737
rs1006737 		0.695 0.120 12 2236129 intron variant G/A snv 0.36
CUI: C0747249
Disease: Paranoid ideation
Paranoid ideation 		0.010 1.000 1 2011 2011
dbSNP: rs10491964
rs10491964 		12 2391265 intron variant G/A;C snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs11062098
rs11062098 		0.925 0.040 12 2065738 intron variant C/T snv 9.4E-02
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs117888112
rs117888112 		12 2257541 intron variant C/A snv 2.6E-02
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs12322010
rs12322010 		12 2542721 intron variant A/G snv 4.3E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs12425203
rs12425203 		12 2365495 intron variant C/T snv 0.36
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs16929460
rs16929460 		12 2488593 intron variant G/A snv 3.9E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2108635
rs2108635 		12 2050390 intron variant A/G snv 0.49
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs2239051
rs2239051 		12 2343026 intron variant A/G snv 2.0E-03
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2239051
rs2239051 		12 2343026 intron variant A/G snv 2.0E-03
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2239051
rs2239051 		12 2343026 intron variant A/G snv 2.0E-03
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2239051
rs2239051 		12 2343026 intron variant A/G snv 2.0E-03
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2239063
rs2239063 		1.000 0.040 12 2402665 intron variant A/C snv 0.23
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs2470397
rs2470397 		12 1996950 intron variant T/C snv 0.21
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs35407591
rs35407591 		12 2408721 intron variant G/A snv 0.36
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs4765929
rs4765929 		12 2409186 intron variant T/C;G snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs55935819
rs55935819 		12 2412413 intron variant G/A snv 0.33
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs587782933
rs587782933 		0.827 0.200 12 2504526 missense variant G/A snv
CUI: C4304347
Disease: Timothy syndrome type 2
Timothy syndrome type 2 		0.010 1.000 1 2015 2015
dbSNP: rs7311607
rs7311607 		12 2413815 intron variant A/G snv 0.34
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		0.700 1.000 1 2016 2016
dbSNP: rs7312105
rs7312105 		12 2414189 intron variant A/G snv 0.34
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		0.700 1.000 1 2012 2012
dbSNP: rs7312105
rs7312105 		12 2414189 intron variant A/G snv 0.34
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs7312107
rs7312107 		12 2414204 intron variant A/G;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs786205745
rs786205745 		0.807 0.320 12 2504538 missense variant G/A;C snv
CUI: C4304347
Disease: Timothy syndrome type 2
Timothy syndrome type 2 		0.010 1.000 1 2015 2015