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: rs111277962
rs111277962 		1.000 0.160 10 98425641 missense variant C/A snv
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs11189600
rs11189600 		1.000 0.040 10 98419517 intron variant C/A;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs11189600
rs11189600 		1.000 0.040 10 98419517 intron variant C/A;T snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs113962169
rs113962169 		1.000 0.080 10 98425662 missense variant A/G snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs121908385
rs121908385 		0.925 0.200 10 98417671 stop gained C/A;T snv 8.0E-06
CUI: C0079504
Disease: Hermanski-Pudlak Syndrome
Hermanski-Pudlak Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1406885199
rs1406885199 		1.000 0.080 10 98433988 missense variant C/A;T snv 6.0E-06
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1406885199
rs1406885199 		1.000 0.080 10 98433988 missense variant C/A;T snv 6.0E-06
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs145364430
rs145364430 		1.000 0.080 10 98429850 missense variant C/A;T snv 1.2E-05; 4.8E-05
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs2296434
rs2296434 		10 98423813 missense variant G/C;T snv 0.11; 4.8E-05
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs2296436
rs2296436 		10 98420094 missense variant T/A;C snv 1.0E-01
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs281865089
rs281865089 		0.925 0.200 10 98420153 stop gained C/G;T snv 4.0E-06
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2005 2005
dbSNP: rs281865090
rs281865090 		0.925 0.200 10 98417664 missense variant A/G snv
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2005 2005
dbSNP: rs3830019
rs3830019 		10 98417091 3 prime UTR variant C/A;T snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs3830020
rs3830020 		10 98416858 3 prime UTR variant G/A;C snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs531454442
rs531454442 		1.000 0.080 10 98425608 missense variant G/A snv 4.0E-05
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs769446880
rs769446880 		10 98423772 stop gained G/A snv 4.0E-06
CUI: C0242994
Disease: Hantavirus Infections
Hantavirus Infections 		Infections 0.010 1.000 1 2013 2013
dbSNP: rs770299394
rs770299394 		1.000 0.080 10 98425852 missense variant A/G snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs775126471
rs775126471 		1.000 0.160 10 98423775 missense variant C/G snv 4.0E-05
CUI: C1847836
Disease: Oculocutaneous Albinism, Type IV
Oculocutaneous Albinism, Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2010 2010
dbSNP: rs121908385
rs121908385 		0.925 0.200 10 98417671 stop gained C/A;T snv 8.0E-06
CUI: C2931875
Disease: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121908386
rs121908386 		0.925 0.200 10 98435273 stop gained C/A;T snv 3.6E-05
CUI: C0079504
Disease: Hermanski-Pudlak Syndrome
Hermanski-Pudlak Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121908386
rs121908386 		0.925 0.200 10 98435273 stop gained C/A;T snv 3.6E-05
CUI: C2931875
Disease: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs281865074
rs281865074 		1.000 0.200 10 98435382 frameshift variant A/- del
CUI: C0079504
Disease: Hermanski-Pudlak Syndrome
Hermanski-Pudlak Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs281865077
rs281865077 		0.925 0.200 10 98435267 splice region variant C/G;T snv 4.0E-06
CUI: C0079504
Disease: Hermanski-Pudlak Syndrome
Hermanski-Pudlak Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs281865077
rs281865077 		0.925 0.200 10 98435267 splice region variant C/G;T snv 4.0E-06
CUI: C2931875
Disease: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs281865078
rs281865078 		1.000 0.200 10 98434072 frameshift variant C/- delins
CUI: C0079504
Disease: Hermanski-Pudlak Syndrome
Hermanski-Pudlak Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.700 0