Source: ALL

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: rs6726292
rs6726292
EML6
1.000 0.080 2 54929493 intron variant G/A;C snv
CUI: C0028754
Disease: Obesity
Obesity 		0.800 1.000 1 2009 2009
dbSNP: rs72806698
rs72806698
EML6
2 54742242 intron variant C/T snv 0.13
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 2 2018 2018
dbSNP: rs72806698
rs72806698
EML6
2 54742242 intron variant C/T snv 0.13
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		0.700 1.000 2 2018 2018
dbSNP: rs10496035
rs10496035
EML6
1.000 0.040 2 54950168 intron variant T/C;G snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2017 2017
dbSNP: rs13394146
rs13394146
EML6
1.000 0.040 2 54948975 intron variant C/T snv 0.36 0.41
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2017 2017
dbSNP: rs17046310
rs17046310
EML6
2 54766861 intron variant C/T snv 9.8E-02
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs17046344
rs17046344
EML6
2 54796463 intron variant G/A snv 0.11
CUI: C0202194
Disease: Potassium measurement
Potassium measurement 		0.700 1.000 1 2018 2018
dbSNP: rs17046344
rs17046344
EML6
2 54796463 intron variant G/A snv 0.11
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2018 2018
dbSNP: rs17046344
rs17046344
EML6
2 54796463 intron variant G/A snv 0.11
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs17046380
rs17046380
EML6
2 54814185 intron variant T/C snv 0.27
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.700 1.000 1 2018 2018
dbSNP: rs200476039
rs200476039
EML6
2 54760823 intron variant TTTTTTTTTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTT delins 5.5E-02
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs200476039
rs200476039
EML6
2 54760823 intron variant TTTTTTTTTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTT delins 5.5E-02
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs200476039
rs200476039
EML6
2 54760823 intron variant TTTTTTTTTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTT delins 5.5E-02
CUI: C0857490
Disease: Granulocyte count
Granulocyte count 		0.700 1.000 1 2016 2016
dbSNP: rs2580764
rs2580764
EML6
2 54969820 intron variant G/A snv 0.30
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs4625954
rs4625954
EML6
1.000 0.040 2 54948408 intron variant C/A snv 0.42
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2017 2017
dbSNP: rs72806698
rs72806698
EML6
2 54742242 intron variant C/T snv 0.13
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2018 2018
dbSNP: rs72917514
rs72917514
EML6
2 54786509 intron variant G/A snv 0.11
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs72917514
rs72917514
EML6
2 54786509 intron variant G/A snv 0.11
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs34917480
rs34917480
RTN4 ; EML6
0.925 0.160 2 54972426 3 prime UTR variant -/TTA ins 7.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs34917480
rs34917480
RTN4 ; EML6
0.925 0.160 2 54972426 3 prime UTR variant -/TTA ins 7.0E-06
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		0.010 1.000 1 2013 2013
dbSNP: rs34917480
rs34917480
RTN4 ; EML6
0.925 0.160 2 54972426 3 prime UTR variant -/TTA ins 7.0E-06
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 1.000 1 2018 2018