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: rs879253818
rs879253818 		0.925 0.120 5 34929913 missense variant C/G snv
CUI: C4310744
Disease: BONE MARROW FAILURE SYNDROME 3
BONE MARROW FAILURE SYNDROME 3 		0.800 1.000 1 2016 2016
dbSNP: rs150576702
rs150576702 		0.925 0.120 5 34937404 stop gained C/T snv 1.2E-05 7.0E-06
CUI: C2986691
Disease: Inherited bone marrow failure syndrome
Inherited bone marrow failure syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Hemic and Lymphatic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs770282904
rs770282904 		0.925 0.120 5 34938907 stop gained G/C;T snv 1.2E-05; 4.0E-06
CUI: C2986691
Disease: Inherited bone marrow failure syndrome
Inherited bone marrow failure syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Hemic and Lymphatic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs879253818
rs879253818 		0.925 0.120 5 34929913 missense variant C/G snv
CUI: C2986691
Disease: Inherited bone marrow failure syndrome
Inherited bone marrow failure syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Hemic and Lymphatic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs150576702
rs150576702 		0.925 0.120 5 34937404 stop gained C/T snv 1.2E-05 7.0E-06
CUI: C4310744
Disease: BONE MARROW FAILURE SYNDROME 3
BONE MARROW FAILURE SYNDROME 3 		0.700 0
dbSNP: rs1561180439
rs1561180439 		1.000 5 34933817 missense variant A/G snv
CUI: C4310744
Disease: BONE MARROW FAILURE SYNDROME 3
BONE MARROW FAILURE SYNDROME 3 		0.700 0
dbSNP: rs1561183139
rs1561183139 		1.000 5 34937407 stop gained C/T snv
CUI: C4310744
Disease: BONE MARROW FAILURE SYNDROME 3
BONE MARROW FAILURE SYNDROME 3 		0.700 0
dbSNP: rs368148362
rs368148362 		1.000 5 34941184 splice donor variant G/A;T snv 6.0E-05; 8.0E-06
CUI: C4310744
Disease: BONE MARROW FAILURE SYNDROME 3
BONE MARROW FAILURE SYNDROME 3 		0.700 0
dbSNP: rs770282904
rs770282904 		0.925 0.120 5 34938907 stop gained G/C;T snv 1.2E-05; 4.0E-06
CUI: C4310744
Disease: BONE MARROW FAILURE SYNDROME 3
BONE MARROW FAILURE SYNDROME 3 		0.700 0
dbSNP: rs771063992
rs771063992 		0.827 0.240 5 34937431 stop gained C/T snv 2.8E-05 2.8E-05
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 0
dbSNP: rs771063992
rs771063992 		0.827 0.240 5 34937431 stop gained C/T snv 2.8E-05 2.8E-05
CUI: C0221217
Disease: Neck webbing
Neck webbing 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs771063992
rs771063992 		0.827 0.240 5 34937431 stop gained C/T snv 2.8E-05 2.8E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs771063992
rs771063992 		0.827 0.240 5 34937431 stop gained C/T snv 2.8E-05 2.8E-05
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		0.700 0
dbSNP: rs771063992
rs771063992 		0.827 0.240 5 34937431 stop gained C/T snv 2.8E-05 2.8E-05
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs771063992
rs771063992 		0.827 0.240 5 34937431 stop gained C/T snv 2.8E-05 2.8E-05
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs771063992
rs771063992 		0.827 0.240 5 34937431 stop gained C/T snv 2.8E-05 2.8E-05
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.700 0