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: rs1000005
rs1000005
21 33060745 intron variant G/C snv 0.51
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
0.700 1.000 1 2016 2016
dbSNP: rs10000770
rs10000770
1.000 0.040 4 142693109 intron variant C/T snv 0.11
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 1 2017 2017
dbSNP: rs1000091588
rs1000091588
1.000 0.120 11 68935374 stop gained C/T snv 7.0E-06
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
0.700 1.000 1 2007 2007
dbSNP: rs1000096
rs1000096
4 38691214 intron variant C/T snv 0.39
CUI: C1305855
Disease: Body mass index
Body mass index
0.700 1.000 1 2019 2019
dbSNP: rs10001106
rs10001106
0.925 0.120 4 10125817 intergenic variant T/A;C snv
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty
0.700 1.000 3 2010 2013
dbSNP: rs10001106
rs10001106
0.925 0.120 4 10125817 intergenic variant T/A;C snv
CUI: C0018099
Disease: Gout
Gout
0.700 1.000 3 2010 2013
dbSNP: rs10001106
rs10001106
0.925 0.120 4 10125817 intergenic variant T/A;C snv
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure)
0.700 1.000 1 2009 2009
dbSNP: rs1000113
rs1000113
0.925 0.040 5 150860514 intron variant C/T snv 0.13
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.840 1.000 5 2007 2015
dbSNP: rs1000113
rs1000113
0.925 0.040 5 150860514 intron variant C/T snv 0.13
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.010 1.000 1 2009 2009
dbSNP: rs10001410
rs10001410
1.000 0.040 4 61608511 intron variant C/A snv 0.55
Attention deficit hyperactivity disorder
0.010 1.000 1 2019 2019
dbSNP: rs10001414
rs10001414
1.000 0.040 4 168569930 intron variant A/G snv 1.7E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 1 2017 2017
dbSNP: rs10001545
rs10001545
4 87254878 intergenic variant C/A;T snv
Alanine aminotransferase measurement
0.700 1.000 1 2018 2018
dbSNP: rs10001545
rs10001545
4 87254878 intergenic variant C/A;T snv
Aspartate aminotransferase measurement
0.700 1.000 1 2018 2018
dbSNP: rs10001545
rs10001545
4 87254878 intergenic variant C/A;T snv
Serum Alanine Aminotransferase Measurement
0.700 1.000 1 2018 2018
dbSNP: rs10001632
rs10001632
0.925 0.120 4 10520247 intron variant A/C snv 0.97
CUI: C0018099
Disease: Gout
Gout
0.700 1.000 1 2013 2013
dbSNP: rs10001632
rs10001632
0.925 0.120 4 10520247 intron variant A/C snv 0.97
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty
0.700 1.000 1 2013 2013
dbSNP: rs10001964
rs10001964
0.925 0.120 4 9957651 intron variant C/T snv 0.48
CUI: C0018099
Disease: Gout
Gout
0.700 1.000 2 2010 2013
dbSNP: rs10001964
rs10001964
0.925 0.120 4 9957651 intron variant C/T snv 0.48
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty
0.700 1.000 2 2010 2013
dbSNP: rs10001964
rs10001964
0.925 0.120 4 9957651 intron variant C/T snv 0.48
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure)
0.700 1.000 1 2009 2009
dbSNP: rs10002082
rs10002082
4 164159753 intron variant A/G snv 0.20
CUI: C0018810
Disease: heart rate
heart rate
0.700 1.000 1 2018 2018
dbSNP: rs10002111
rs10002111
4 66949786 regulatory region variant A/G snv 0.82
CUI: C1305855
Disease: Body mass index
Body mass index
0.700 1.000 1 2019 2019
dbSNP: rs10002268
rs10002268
1.000 0.080 4 55653725 intergenic variant T/C snv 0.41
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus
0.700 1.000 1 2011 2011
dbSNP: rs1000256867
rs1000256867
17 7673550 missense variant T/A;G snv 4.0E-06
High-Grade Squamous Intraepithelial Lesions
0.010 1.000 1 2020 2020
dbSNP: rs10002630
rs10002630
4 148737523 intron variant G/C snv 0.31
CUI: C2242456
Disease: thyroid function
thyroid function
0.700 1.000 1 2012 2012
dbSNP: rs1000283
rs1000283
0.925 0.080 1 209721316 intron variant G/A snv 0.18
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
0.010 1.000 1 2011 2011