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: rs6458375
rs6458375 		6 44234615 downstream gene variant C/T snv 0.21
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs6458375
rs6458375 		6 44234615 downstream gene variant C/T snv 0.21
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs1131690802
rs1131690802 		1.000 0.160 6 44232906 missense variant A/C snv
CUI: C4023620
Disease: Blood group antigen abnormality
Blood group antigen abnormality 		0.700 0
dbSNP: rs1131690802
rs1131690802 		1.000 0.160 6 44232906 missense variant A/C snv
CUI: C0014761
Disease: Erythroblastosis, Fetal
Erythroblastosis, Fetal 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs767108156
rs767108156 		1.000 0.080 6 44233520 missense variant A/G snv 8.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs760370
rs760370 		0.925 0.120 6 44233216 intron variant A/G snv 0.36
CUI: C0002871
Disease: Anemia
Anemia 		Hemic and Lymphatic Diseases 0.030 0.333 3 2015 2017
dbSNP: rs324148
rs324148 		0.882 0.280 6 44228841 intron variant T/C snv 0.78
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs324148
rs324148 		0.882 0.280 6 44228841 intron variant T/C snv 0.78
CUI: C2936904
Disease: Opitz GBBB Syndrome, X-Linked
Opitz GBBB Syndrome, X-Linked 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Stomatognathic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs324148
rs324148 		0.882 0.280 6 44228841 intron variant T/C snv 0.78
CUI: C0393706
Disease: Early infantile epileptic encephalopathy with suppression bursts
Early infantile epileptic encephalopathy with suppression bursts 		Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs45573936
rs45573936 		1.000 0.120 6 44230625 missense variant T/C snv 1.8E-02 1.6E-02
CUI: C0586323
Disease: Alcohol Withdrawal Seizures
Alcohol Withdrawal Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Chemically-Induced Disorders 0.010 1.000 1 2011 2011
dbSNP: rs693955
rs693955 		0.925 0.040 6 44224183 intron variant A/C snv 0.85
CUI: C0023530
Disease: Leukopenia
Leukopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs693955
rs693955 		0.925 0.040 6 44224183 intron variant A/C snv 0.85
CUI: C0027947
Disease: Neutropenia
Neutropenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs747199
rs747199 		0.925 0.040 6 44226608 intron variant G/C snv 0.15
CUI: C0027947
Disease: Neutropenia
Neutropenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs747199
rs747199 		0.925 0.040 6 44226608 intron variant G/C snv 0.15
CUI: C0023530
Disease: Leukopenia
Leukopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs760370
rs760370 		0.925 0.120 6 44233216 intron variant A/G snv 0.36
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.010 1.000 1 2017 2017
dbSNP: rs760370
rs760370 		0.925 0.120 6 44233216 intron variant A/G snv 0.36
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs9394992
rs9394992 		1.000 0.040 6 44228255 intron variant C/T snv 0.30
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 1.000 1 2014 2014