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: rs1011731
rs1011731
PIGC ; DNM3
1 172377408 intron variant G/A snv 0.46
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.800 1.000 2 2010 2015
dbSNP: rs12035622
rs12035622
ATP1B1 ; NME7
1 169133102 intron variant T/A snv 9.9E-02
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		0.700 1.000 2 2017 2019
dbSNP: rs12405515
rs12405515
PIGC ; DNM3
1 172388301 intron variant G/A;C;T snv
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 2 2017 2017
dbSNP: rs1011731
rs1011731
PIGC ; DNM3
1 172377408 intron variant G/A snv 0.46
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2017 2017
dbSNP: rs1011731
rs1011731
PIGC ; DNM3
1 172377408 intron variant G/A snv 0.46
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2017 2017
dbSNP: rs1011731
rs1011731
PIGC ; DNM3
1 172377408 intron variant G/A snv 0.46
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs1138486
rs1138486
ATP1B1 ; NME7
1 169132697 3 prime UTR variant C/G;T snv 0.12
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		0.700 1.000 1 2017 2017
dbSNP: rs12132562
rs12132562
PIGC ; DNM3
1 172384331 intron variant C/G;T snv
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		0.700 1.000 1 2018 2018
dbSNP: rs12138803
rs12138803
PIGC ; DNM3
1 172379683 intron variant C/T snv 0.23
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs12405515
rs12405515
PIGC ; DNM3
1 172388301 intron variant G/A;C;T snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2017 2017
dbSNP: rs17369123
rs17369123
PIGC ; DNM3
1 172386701 intron variant C/A;T snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs4658973
rs4658973
WDR3 ; SPAG17
0.882 0.080 1 117956431 intron variant T/G snv 0.34
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		0.010 1.000 1 2008 2008
dbSNP: rs4658973
rs4658973
WDR3 ; SPAG17
0.882 0.080 1 117956431 intron variant T/G snv 0.34
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid 		0.010 1.000 1 2008 2008
dbSNP: rs4658973
rs4658973
WDR3 ; SPAG17
0.882 0.080 1 117956431 intron variant T/G snv 0.34
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		0.010 1.000 1 2008 2008
dbSNP: rs4916251
rs4916251
PIGC ; DNM3
0.882 0.040 1 172377256 intron variant T/A snv 0.70
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.010 1.000 1 2013 2013
dbSNP: rs4916251
rs4916251
PIGC ; DNM3
0.882 0.040 1 172377256 intron variant T/A snv 0.70
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		0.010 1.000 1 2013 2013
dbSNP: rs4916251
rs4916251
PIGC ; DNM3
0.882 0.040 1 172377256 intron variant T/A snv 0.70
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.010 1.000 1 2013 2013
dbSNP: rs714515
rs714515
PIGC ; DNM3
1 172383850 intron variant G/A snv 0.46
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		0.700 1.000 1 2017 2017
dbSNP: rs714515
rs714515
PIGC ; DNM3
1 172383850 intron variant G/A snv 0.46
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2018 2018
dbSNP: rs714515
rs714515
PIGC ; DNM3
1 172383850 intron variant G/A snv 0.46
CUI: C0037369
Disease: Smoking
Smoking 		0.700 1.000 1 2017 2017
dbSNP: rs7519429
rs7519429
PIGC ; DNM3
1 172380106 intron variant A/C snv 0.29
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs7519429
rs7519429
PIGC ; DNM3
1 172380106 intron variant A/C snv 0.29
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1057516778
rs1057516778
ACADM ; SLC44A5
1.000 0.080 1 75724788 start lost A/G snv
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 0
dbSNP: rs1553121887
rs1553121887
ACADM ; SLC44A5
1.000 0.080 1 75724790 start lost G/C snv
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 0
dbSNP: rs768596219
rs768596219
ACADM ; SLC44A5
1.000 0.080 1 75724819 splice donor variant T/C;G snv 6.0E-06
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 0