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: rs11030967
rs11030967 		11 4107890 intron variant C/T snv 0.51
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 2 2016 2019
dbSNP: rs11030967
rs11030967 		11 4107890 intron variant C/T snv 0.51
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 2 2016 2019
dbSNP: rs11030976
rs11030976 		11 4108629 intron variant T/A;C snv
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs720106
rs720106 		11 4118748 intron variant T/C snv 3.9E-02
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.700 1.000 1 2008 2008
dbSNP: rs7947605
rs7947605 		11 4130066 intron variant T/A;C;G snv
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2018 2018
dbSNP: rs1042919
rs1042919 		1.000 0.040 11 4138534 3 prime UTR variant A/T snv 0.88
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.020 1.000 2 2013 2017
dbSNP: rs12806698
rs12806698 		1.000 0.080 11 4094744 non coding transcript exon variant C/A snv 0.22
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1399104933
rs1399104933 		0.925 0.120 11 4111950 missense variant A/G snv 4.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1399104933
rs1399104933 		0.925 0.120 11 4111950 missense variant A/G snv 4.0E-06
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs1465952
rs1465952 		0.882 0.080 11 4093309 upstream gene variant G/A;T snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1465952
rs1465952 		0.882 0.080 11 4093309 upstream gene variant G/A;T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1465952
rs1465952 		0.882 0.080 11 4093309 upstream gene variant G/A;T snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs183484
rs183484 		0.925 0.040 11 4119902 synonymous variant C/A snv 0.45 0.39
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs183484
rs183484 		0.925 0.040 11 4119902 synonymous variant C/A snv 0.45 0.39
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs768206264
rs768206264 		1.000 0.080 11 4118395 synonymous variant T/C snv 3.2E-05 7.0E-05
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2011 2011