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: rs13256367
rs13256367
8 127322655 intron variant A/C;T snv
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
0.700 1.000 2 2018 2019
dbSNP: rs10505476
rs10505476
8 127395871 intron variant C/T snv 0.38
CUI: C0001430
Disease: Adenoma
Adenoma
Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs10505476
rs10505476
8 127395871 intron variant C/T snv 0.38
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs10505476
rs10505476
8 127395871 intron variant C/T snv 0.38
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs16901549
rs16901549
8 126583939 intron variant G/T snv 8.6E-03
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms
Digestive System Diseases; Neoplasms 0.700 1.000 1 2012 2012
dbSNP: rs17464492
rs17464492
8 127330621 intron variant A/G snv 0.25
Prostate specific antigen measurement
0.700 1.000 1 2017 2017
dbSNP: rs1906223
rs1906223
8 126921448 intron variant C/T snv 0.29
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019
dbSNP: rs191785584
rs191785584
8 127171626 intron variant A/G snv 1.5E-02
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
0.700 1.000 1 2019 2019
dbSNP: rs4871750
rs4871750
8 126889758 intron variant G/A;C snv
CUI: C0005938
Disease: Bone Density
Bone Density
0.700 1.000 1 2012 2012
dbSNP: rs4871750
rs4871750
8 126889758 intron variant G/A;C snv
CUI: C0162701
Disease: Polysomnography
Polysomnography
0.700 1.000 1 2012 2012
dbSNP: rs4871752
rs4871752
8 126908341 intron variant G/A snv 0.43
CUI: C0162701
Disease: Polysomnography
Polysomnography
0.700 1.000 1 2012 2012
dbSNP: rs7007694
rs7007694
8 127086921 non coding transcript exon variant C/G;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs7007694
rs7007694
8 127086921 non coding transcript exon variant C/G;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs7012789
rs7012789
8 126904963 intron variant A/G;T snv
CUI: C0162701
Disease: Polysomnography
Polysomnography
0.700 1.000 1 2012 2012
dbSNP: rs7815245
rs7815245
8 127371351 intron variant C/T snv 0.38
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs7815245
rs7815245
8 127371351 intron variant C/T snv 0.38
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs7817717
rs7817717
8 126891017 intron variant T/G snv 0.43
CUI: C0162701
Disease: Polysomnography
Polysomnography
0.700 1.000 1 2012 2012
dbSNP: rs1962471
rs1962471
0.925 0.040 8 127269463 intron variant A/G snv 0.29
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
0.700 1.000 1 2018 2018
dbSNP: rs1962471
rs1962471
0.925 0.040 8 127269463 intron variant A/G snv 0.29
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs2445610
rs2445610
1.000 0.040 8 127184843 non coding transcript exon variant A/G snv 0.36
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs3843549
rs3843549
1.000 0.040 8 127398235 intron variant G/A snv 0.88
CUI: C4552766
Disease: Miscarriage
Miscarriage
Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2019 2019
dbSNP: rs6983561
rs6983561
0.925 0.080 8 127094635 intron variant A/C snv 0.17
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
Neoplasms; Male Urogenital Diseases 0.780 1.000 10 2008 2017
dbSNP: rs6983561
rs6983561
0.925 0.080 8 127094635 intron variant A/C snv 0.17
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
Neoplasms; Male Urogenital Diseases 0.780 1.000 9 2008 2017
dbSNP: rs16901966
rs16901966
0.925 0.080 8 127098007 intron variant A/G snv 0.13
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
Neoplasms; Male Urogenital Diseases 0.730 1.000 5 2008 2016
dbSNP: rs620861
rs620861
0.925 0.080 8 127323428 intron variant G/A snv 0.36
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
Neoplasms; Male Urogenital Diseases 0.730 0.750 4 2008 2017