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: 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: rs1800601
rs1800601 		0.882 1 156815825 5 prime UTR variant G/A;T snv 0.67; 4.0E-06
CUI: C3150797
Disease: AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 		0.700 1.000 1 2019 2019
dbSNP: rs1800601
rs1800601 		0.882 1 156815825 5 prime UTR variant G/A;T snv 0.67; 4.0E-06
CUI: C4310768
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 		0.700 1.000 1 2019 2019
dbSNP: rs1800601
rs1800601 		0.882 1 156815825 5 prime UTR variant G/A;T snv 0.67; 4.0E-06
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1800601
rs1800601 		0.882 1 156815825 5 prime UTR variant G/A;T snv 0.67; 4.0E-06
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.700 1.000 1 2019 2019
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: rs6337
rs6337 		1 156879203 synonymous variant C/T snv 0.58 0.54
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2011 2011
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: rs764171953
rs764171953 		1.000 0.080 1 156874570 splice acceptor variant G/A snv 4.0E-06
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2001 2001
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