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: rs371769427
rs371769427 		0.683 0.400 21 43104346 missense variant G/A;T snv 8.0E-06
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		Hemic and Lymphatic Diseases 0.850 1.000 7 2013 2019
dbSNP: rs371769427
rs371769427 		0.683 0.400 21 43104346 missense variant G/A;T snv 8.0E-06
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.730 0.750 4 2016 2019
dbSNP: rs371246226
rs371246226 		0.827 0.160 21 43094667 missense variant T/C;G snv 2.4E-05; 2.4E-05
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		Hemic and Lymphatic Diseases 0.710 1.000 2 2011 2015
dbSNP: rs371769427
rs371769427 		0.683 0.400 21 43104346 missense variant G/A;T snv 8.0E-06
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 4 2011 2016
dbSNP: rs371246226
rs371246226 		0.827 0.160 21 43094667 missense variant T/C;G snv 2.4E-05; 2.4E-05
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 2 2011 2012
dbSNP: rs371769427
rs371769427 		0.683 0.400 21 43104346 missense variant G/A;T snv 8.0E-06
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs371769427
rs371769427 		0.683 0.400 21 43104346 missense variant G/A;T snv 8.0E-06
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs371769427
rs371769427 		0.683 0.400 21 43104346 missense variant G/A;T snv 8.0E-06
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2016 2016
dbSNP: rs371769427
rs371769427 		0.683 0.400 21 43104346 missense variant G/A;T snv 8.0E-06
CUI: C0280630
Disease: Uterine Carcinosarcoma
Uterine Carcinosarcoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2016 2016
dbSNP: rs371769427
rs371769427 		0.683 0.400 21 43104346 missense variant G/A;T snv 8.0E-06
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2016 2016
dbSNP: rs371769427
rs371769427 		0.683 0.400 21 43104346 missense variant G/A;T snv 8.0E-06
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2016 2016
dbSNP: rs371769427
rs371769427 		0.683 0.400 21 43104346 missense variant G/A;T snv 8.0E-06
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.020 1.000 2 2015 2016
dbSNP: rs371769427
rs371769427 		0.683 0.400 21 43104346 missense variant G/A;T snv 8.0E-06
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2016 2018
dbSNP: rs371769427
rs371769427 		0.683 0.400 21 43104346 missense variant G/A;T snv 8.0E-06
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2016 2018
dbSNP: rs371769427
rs371769427 		0.683 0.400 21 43104346 missense variant G/A;T snv 8.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2016 2018
dbSNP: rs371769427
rs371769427 		0.683 0.400 21 43104346 missense variant G/A;T snv 8.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.020 1.000 2 2014 2018
dbSNP: rs371246226
rs371246226 		0.827 0.160 21 43094667 missense variant T/C;G snv 2.4E-05; 2.4E-05
CUI: C0280451
Disease: de novo myelodysplastic syndromes
de novo myelodysplastic syndromes 		Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs371246226
rs371246226 		0.827 0.160 21 43094667 missense variant T/C;G snv 2.4E-05; 2.4E-05
CUI: C1292772
Disease: Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2020 2020
dbSNP: rs371246226
rs371246226 		0.827 0.160 21 43094667 missense variant T/C;G snv 2.4E-05; 2.4E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs371246226
rs371246226 		0.827 0.160 21 43094667 missense variant T/C;G snv 2.4E-05; 2.4E-05
CUI: C0023480
Disease: Leukemia, Myelomonocytic, Chronic
Leukemia, Myelomonocytic, Chronic 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs371246226
rs371246226 		0.827 0.160 21 43094667 missense variant T/C;G snv 2.4E-05; 2.4E-05
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs371246226
rs371246226 		0.827 0.160 21 43094667 missense variant T/C;G snv 2.4E-05; 2.4E-05
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs371769427
rs371769427 		0.683 0.400 21 43104346 missense variant G/A;T snv 8.0E-06
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome 		Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs371769427
rs371769427 		0.683 0.400 21 43104346 missense variant G/A;T snv 8.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs371769427
rs371769427 		0.683 0.400 21 43104346 missense variant G/A;T snv 8.0E-06
CUI: C0023418
Disease: leukemia
leukemia 		Neoplasms 0.010 1.000 1 2018 2018