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: rs1064794957
rs1064794957
17 42317182 missense variant G/A;C snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 11 2007 2018
dbSNP: rs34846688
rs34846688
17 42343456 intron variant TTTTTTTTTTTT/-;T;TT;TTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT delins 0.30
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
0.700 1.000 1 2019 2019
dbSNP: rs744166
rs744166
0.689 0.560 17 42362183 intron variant A/G snv 0.48
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.870 1.000 8 2008 2016
dbSNP: rs744166
rs744166
0.689 0.560 17 42362183 intron variant A/G snv 0.48
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.030 1.000 3 2012 2014
dbSNP: rs744166
rs744166
0.689 0.560 17 42362183 intron variant A/G snv 0.48
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.020 1.000 2 2014 2015
dbSNP: rs744166
rs744166
0.689 0.560 17 42362183 intron variant A/G snv 0.48
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.020 1.000 2 2014 2016
dbSNP: rs744166
rs744166
0.689 0.560 17 42362183 intron variant A/G snv 0.48
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.820 1.000 2 2010 2012
dbSNP: rs744166
rs744166
0.689 0.560 17 42362183 intron variant A/G snv 0.48
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.020 1.000 2 2014 2015
dbSNP: rs744166
rs744166
0.689 0.560 17 42362183 intron variant A/G snv 0.48
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease
0.020 1.000 2 2014 2015
dbSNP: rs744166
rs744166
0.689 0.560 17 42362183 intron variant A/G snv 0.48
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.700 1.000 1 2015 2015
dbSNP: rs744166
rs744166
0.689 0.560 17 42362183 intron variant A/G snv 0.48
CUI: C0280324
Disease: Laryngeal Squamous Cell Carcinoma
Laryngeal Squamous Cell Carcinoma
0.010 1.000 1 2019 2019
dbSNP: rs744166
rs744166
0.689 0.560 17 42362183 intron variant A/G snv 0.48
CUI: C0032000
Disease: Pituitary Adenoma
Pituitary Adenoma
0.010 1.000 1 2017 2017
dbSNP: rs744166
rs744166
0.689 0.560 17 42362183 intron variant A/G snv 0.48
CUI: C0017152
Disease: Gastritis
Gastritis
0.010 1.000 1 2015 2015
dbSNP: rs744166
rs744166
0.689 0.560 17 42362183 intron variant A/G snv 0.48
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 1.000 1 2015 2015
dbSNP: rs744166
rs744166
0.689 0.560 17 42362183 intron variant A/G snv 0.48
CUI: C0038362
Disease: Stomatitis
Stomatitis
0.010 1.000 1 2017 2017
dbSNP: rs744166
rs744166
0.689 0.560 17 42362183 intron variant A/G snv 0.48
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.010 1.000 1 2013 2013
dbSNP: rs744166
rs744166
0.689 0.560 17 42362183 intron variant A/G snv 0.48
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.010 1.000 1 2011 2011
dbSNP: rs744166
rs744166
0.689 0.560 17 42362183 intron variant A/G snv 0.48
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 1.000 1 2015 2015
dbSNP: rs744166
rs744166
0.689 0.560 17 42362183 intron variant A/G snv 0.48
CUI: C0004096
Disease: Asthma
Asthma
0.700 1.000 1 2011 2011
dbSNP: rs744166
rs744166
0.689 0.560 17 42362183 intron variant A/G snv 0.48
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.010 1.000 1 2014 2014
dbSNP: rs744166
rs744166
0.689 0.560 17 42362183 intron variant A/G snv 0.48
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia
0.010 1.000 1 2018 2018
dbSNP: rs744166
rs744166
0.689 0.560 17 42362183 intron variant A/G snv 0.48
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.010 1.000 1 2014 2014
dbSNP: rs744166
rs744166
0.689 0.560 17 42362183 intron variant A/G snv 0.48
CUI: C0018213
Disease: Graves Disease
Graves Disease
0.010 1.000 1 2015 2015
dbSNP: rs744166
rs744166
0.689 0.560 17 42362183 intron variant A/G snv 0.48
CUI: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic
0.010 1.000 1 2013 2013
dbSNP: rs4796793
rs4796793
0.716 0.320 17 42390192 upstream gene variant G/C snv 0.67
CUI: C0278678
Disease: Metastatic Renal Cell Cancer
Metastatic Renal Cell Cancer
0.020 1.000 2 2016 2016