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: rs1638526
rs1638526
AKAP10
17 19945137 intron variant T/C snv 0.33
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs1638527
rs1638527
AKAP10
17 19942080 intron variant G/A snv 0.21
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs1638528
rs1638528
AKAP10
17 19934616 intron variant A/C;G snv 0.29
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs17604987
rs17604987
AKAP10
17 19964018 intron variant T/A snv 0.21
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs203467
rs203467
AKAP10
17 19906436 intron variant C/T snv 0.19
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs203478
rs203478
AKAP10
17 19926529 intron variant G/C snv 0.21
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs203480
rs203480
AKAP10
17 19925646 intron variant G/A snv 0.21
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs2108978
rs2108978
AKAP10
17 19958145 missense variant C/G;T snv 0.37; 1.2E-05 0.43
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2018 2018
dbSNP: rs35398779
rs35398779
AKAP10
17 19949782 intron variant AAAAAA/-;AA;AAA;AAAA;AAAAA;AAAAAAA;AAAAAAAA delins
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs386553773
rs386553773
AKAP10
17 19909228 missense variant T/C snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2018 2018
dbSNP: rs57112968
rs57112968
AKAP10
17 19920960 intron variant TT/-;T;TTT;TTTT delins
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs6813
rs6813
AKAP10
17 19905132 3 prime UTR variant T/C snv 0.28
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs7209653
rs7209653
AKAP10
17 19978771 upstream gene variant T/C snv 0.31
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs7222403
rs7222403
AKAP10
17 19975851 intron variant T/C snv 0.46
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs8079923
rs8079923
AKAP10
17 19966231 intron variant C/T snv 0.21
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs850622
rs850622
AKAP10
17 19934223 intron variant C/A;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs203462
rs203462
AKAP10
0.807 0.200 17 19909228 missense variant T/C snv 0.37 0.43
CUI: C4016898
Disease: CARDIAC CONDUCTION DEFECT, SUSCEPTIBILITY TO
CARDIAC CONDUCTION DEFECT, SUSCEPTIBILITY TO 		0.700 0