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: rs1007211
rs1007211 		1.000 0.040 1 156860987 missense variant G/A snv 7.5E-03 9.4E-03
CUI: C0008370
Disease: Cholestasis
Cholestasis 		Digestive System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1009726086
rs1009726086 		1.000 0.040 1 156881499 missense variant C/T snv 1.4E-05 7.0E-06
CUI: C0221292
Disease: Basophilic leukemia
Basophilic leukemia 		Neoplasms 0.010 < 0.001 1 2018 2018
dbSNP: rs1293540396
rs1293540396 		1.000 1 156868557 synonymous variant C/T snv 1.8E-05 2.8E-05
CUI: C1833929
Disease: THYROID CARCINOMA, SPORADIC MEDULLARY
THYROID CARCINOMA, SPORADIC MEDULLARY 		0.010 1.000 1 2002 2002
dbSNP: rs150579345
rs150579345 		1 156876508 missense variant G/A snv 1.4E-04 9.8E-05
CUI: C0398368
Disease: Lymphatic Abnormalities
Lymphatic Abnormalities 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs199647144
rs199647144 		1 156842109 missense variant T/C;G snv 8.8E-05; 4.0E-06
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs371344688
rs371344688 		1.000 0.040 1 156876514 missense variant C/G;T snv 6.4E-05; 2.4E-05
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs374918502
rs374918502 		0.925 0.080 1 156880056 missense variant C/T snv 6.0E-05 7.6E-06
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs374918502
rs374918502 		0.925 0.080 1 156880056 missense variant C/T snv 6.0E-05 7.6E-06
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs6334
rs6334 		1.000 0.080 1 156876441 missense variant G/A;C;T snv 0.22; 4.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2003 2003
dbSNP: rs6334
rs6334 		1.000 0.080 1 156876441 missense variant G/A;C;T snv 0.22; 4.0E-06
CUI: C0030193
Disease: Pain
Pain 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2018 2018
dbSNP: rs6334
rs6334 		1.000 0.080 1 156876441 missense variant G/A;C;T snv 0.22; 4.0E-06
CUI: C0234252
Disease: Mechanical pain
Mechanical pain 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2018 2018
dbSNP: rs6336
rs6336 		0.827 0.120 1 156879126 missense variant C/T snv 4.2E-02 3.7E-02
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs6336
rs6336 		0.827 0.120 1 156879126 missense variant C/T snv 4.2E-02 3.7E-02
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs6336
rs6336 		0.827 0.120 1 156879126 missense variant C/T snv 4.2E-02 3.7E-02
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs6336
rs6336 		0.827 0.120 1 156879126 missense variant C/T snv 4.2E-02 3.7E-02
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs6336
rs6336 		0.827 0.120 1 156879126 missense variant C/T snv 4.2E-02 3.7E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs746049437
rs746049437 		1.000 0.080 1 156876550 missense variant G/A snv 2.4E-05 7.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs759471657
rs759471657 		1 156876418 stop gained G/A;C;T snv 1.2E-05; 4.0E-06
CUI: C0398368
Disease: Lymphatic Abnormalities
Lymphatic Abnormalities 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs763591781
rs763591781 		1.000 0.040 1 156881481 missense variant C/T snv 5.1E-05 2.8E-05
CUI: C0221292
Disease: Basophilic leukemia
Basophilic leukemia 		Neoplasms 0.010 < 0.001 1 2018 2018
dbSNP: rs768876280
rs768876280 		1.000 0.040 1 156881613 missense variant C/T snv 4.2E-06 2.1E-05
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		Musculoskeletal Diseases 0.010 1.000 1 2018 2018
dbSNP: rs769854785
rs769854785 		1 156871656 synonymous variant C/T snv
CUI: C0030193
Disease: Pain
Pain 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2010 2010
dbSNP: rs775984846
rs775984846 		1.000 1 156881535 missense variant G/A;C snv 3.5E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 < 0.001 1 2008 2008
dbSNP: rs781698345
rs781698345 		1 156873882 missense variant T/C snv 4.8E-06 2.1E-05
CUI: C0027889
Disease: Hereditary Sensory and Autonomic Neuropathies
Hereditary Sensory and Autonomic Neuropathies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs926103
rs926103 		0.925 0.120 1 156815190 missense variant T/C snv 0.64 0.57
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1032968973
rs1032968973 		1.000 0.080 1 156842164 synonymous variant A/G snv 4.0E-06 1.4E-05
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.020 1.000 2 2016 2017