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: rs1057517917
rs1057517917 		0.925 0.200 12 112450368 missense variant AT/GC mnv
CUI: C0013336
Disease: Dwarfism
Dwarfism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 < 0.001 1 2006 2006
dbSNP: rs11066301
rs11066301 		0.827 0.200 12 112433568 intron variant A/G snv 0.30
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1214031315
rs1214031315 		0.882 0.040 12 112419123 splice region variant G/A snv
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma 		Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs1214031315
rs1214031315 		0.882 0.040 12 112419123 splice region variant G/A snv
CUI: C1332995
Disease: Childhood Pilocytic Astrocytoma
Childhood Pilocytic Astrocytoma 		Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs1214031315
rs1214031315 		0.882 0.040 12 112419123 splice region variant G/A snv
CUI: C0280781
Disease: Adult Pilocytic Astrocytoma
Adult Pilocytic Astrocytoma 		Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs121918453
rs121918453 		0.732 0.280 12 112450394 missense variant G/A;C;T snv
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma 		Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs121918453
rs121918453 		0.732 0.280 12 112450394 missense variant G/A;C;T snv
CUI: C0220611
Disease: Childhood Rhabdomyosarcoma
Childhood Rhabdomyosarcoma 		Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs121918453
rs121918453 		0.732 0.280 12 112450394 missense variant G/A;C;T snv
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
Adult Rhabdomyosarcoma 		Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs121918453
rs121918453 		0.732 0.280 12 112450394 missense variant G/A;C;T snv
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs121918454
rs121918454 		0.742 0.280 12 112450395 missense variant C/A;G;T snv
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs121918456
rs121918456 		0.752 0.280 12 112473023 missense variant A/C;G snv
CUI: C0013336
Disease: Dwarfism
Dwarfism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs121918457
rs121918457 		0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs121918457
rs121918457 		0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs121918457
rs121918457 		0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs121918457
rs121918457 		0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs121918457
rs121918457 		0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0442874
Disease: Neuropathy
Neuropathy 		Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs121918457
rs121918457 		0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0027796
Disease: Neuralgia
Neuralgia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs121918459
rs121918459 		0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0013336
Disease: Dwarfism
Dwarfism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 < 0.001 1 2006 2006
dbSNP: rs121918461
rs121918461 		0.827 0.240 12 112450362 missense variant A/C;G;T snv
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 1.000 1 2016 2016
dbSNP: rs121918461
rs121918461 		0.827 0.240 12 112450362 missense variant A/C;G;T snv
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs121918461
rs121918461 		0.827 0.240 12 112450362 missense variant A/C;G;T snv
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs121918461
rs121918461 		0.827 0.240 12 112450362 missense variant A/C;G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs121918462
rs121918462 		0.742 0.320 12 112450398 missense variant C/T snv
CUI: C0272278
Disease: Congenital thrombocytopenia
Congenital thrombocytopenia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs121918462
rs121918462 		0.742 0.320 12 112450398 missense variant C/T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs121918462
rs121918462 		0.742 0.320 12 112450398 missense variant C/T snv
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2015 2015