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: rs7937682
rs7937682
0.925 0.040 11 111709215 intron variant G/A;C snv
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
Digestive System Diseases 0.700 1.000 2 2013 2017
dbSNP: rs10891290
rs10891290
11 111734491 intron variant T/C snv 0.35
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
0.700 1.000 1 2019 2019
dbSNP: rs11213999
rs11213999
11 111763868 intron variant C/A snv 0.13
CUI: C0262478
Disease: Wrinkled face
Wrinkled face
0.700 1.000 1 2018 2018
dbSNP: rs12362593
rs12362593
11 111715367 intron variant C/G snv 0.24
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
0.700 1.000 1 2018 2018
dbSNP: rs17565975
rs17565975
11 111716226 intron variant G/A snv 0.44
CUI: C0596887
Disease: mathematical ability
mathematical ability
0.700 1.000 1 2018 2018
dbSNP: rs4936675
rs4936675
11 111752364 intron variant T/A snv 0.71 0.75
Finding of Mean Corpuscular Hemoglobin
0.700 1.000 1 2019 2019
dbSNP: rs643506
rs643506
1.000 0.080 11 111765903 5 prime UTR variant T/G snv 0.71 0.75
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs7937682
rs7937682
0.925 0.040 11 111709215 intron variant G/A;C snv
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis
Digestive System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1318084062
rs1318084062
1.000 0.080 11 111742586 missense variant A/G snv 8.0E-06
CUI: C0338106
Disease: Adenocarcinoma of colon
Adenocarcinoma of colon
Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs142771326
rs142771326
1.000 0.080 11 111766340 missense variant C/G;T snv 2.0E-04 5.2E-04
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.700 0
dbSNP: rs1442893893
rs1442893893
1.000 0.080 11 111753514 missense variant A/G snv 7.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1805076
rs1805076
0.851 0.120 11 111764842 missense variant C/T snv 6.5E-03 7.0E-03
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.700 0
dbSNP: rs1805076
rs1805076
0.851 0.120 11 111764842 missense variant C/T snv 6.5E-03 7.0E-03
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.700 0
dbSNP: rs973682124
rs973682124
1.000 0.080 11 111743419 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.700 0
dbSNP: rs1805076
rs1805076
0.851 0.120 11 111764842 missense variant C/T snv 6.5E-03 7.0E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1805076
rs1805076
0.851 0.120 11 111764842 missense variant C/T snv 6.5E-03 7.0E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1805076
rs1805076
0.851 0.120 11 111764842 missense variant C/T snv 6.5E-03 7.0E-03
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs1805076
rs1805076
0.851 0.120 11 111764842 missense variant C/T snv 6.5E-03 7.0E-03
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs1805076
rs1805076
0.851 0.120 11 111764842 missense variant C/T snv 6.5E-03 7.0E-03
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2006 2006