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: rs879255268
rs879255268 		0.925 0.040 20 37403347 missense variant G/A snv
CUI: C4310789
Disease: THROMBOCYTOPENIA 6
THROMBOCYTOPENIA 6 		0.800 1.000 1 2016 2016
dbSNP: rs879255268
rs879255268 		0.925 0.040 20 37403347 missense variant G/A snv
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		Hemic and Lymphatic Diseases 0.710 1.000 1 2019 2019
dbSNP: rs121913314
rs121913314 		0.851 0.120 20 37403359 stop gained C/T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.700 1.000 1 2014 2014
dbSNP: rs754626
rs754626 		0.925 0.080 20 37388937 intron variant T/G snv 0.25
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs121913314
rs121913314 		0.851 0.120 20 37403359 stop gained C/T snv
CUI: C4016406
Disease: COLON CANCER, ADVANCED, SOMATIC
COLON CANCER, ADVANCED, SOMATIC 		0.700 0
dbSNP: rs879255268
rs879255268 		0.925 0.040 20 37403347 missense variant G/A snv
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121913314
rs121913314 		0.851 0.120 20 37403359 stop gained C/T snv
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2000 2000
dbSNP: rs121913314
rs121913314 		0.851 0.120 20 37403359 stop gained C/T snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2000 2000
dbSNP: rs121913314
rs121913314 		0.851 0.120 20 37403359 stop gained C/T snv
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2000 2000
dbSNP: rs754626
rs754626 		0.925 0.080 20 37388937 intron variant T/G snv 0.25
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs764262104
rs764262104 		1.000 0.120 20 37402462 missense variant C/T snv 8.0E-06
CUI: C3887645
Disease: Job Syndrome
Job Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs768889863
rs768889863 		20 37400211 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2017 2017