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: 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: 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: 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: 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
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: 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: 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: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.700 1.000 1 2019 2019
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: 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: 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: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 0.010 1.000 1 2009 2009
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: 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: 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: rs1026300967
rs1026300967 		1.000 1 156868246 missense variant T/C snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 3 2012 2017
dbSNP: rs1553263326
rs1553263326 		1.000 1 156881446 intron variant G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 3 2012 2017
dbSNP: rs543320028
rs543320028 		0.925 0.160 1 156864394 missense variant C/A;T snv 4.0E-06; 1.2E-05
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.700 0
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: rs748653984
rs748653984 		1.000 0.080 1 156868159 missense variant T/A;C snv 4.0E-06; 4.0E-06
CUI: C0020075
Disease: Hereditary Sensory Autonomic Neuropathy, Type 5
Hereditary Sensory Autonomic Neuropathy, Type 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.030 1.000 3 2010 2018
dbSNP: rs778056858
rs778056858 		1.000 0.080 1 156866944 missense variant T/C snv 8.0E-06 7.0E-06
CUI: C0020075
Disease: Hereditary Sensory Autonomic Neuropathy, Type 5
Hereditary Sensory Autonomic Neuropathy, Type 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.030 1.000 3 2010 2018
dbSNP: rs121964866
rs121964866 		1.000 0.080 1 156876496 missense variant G/A;C snv 2.0E-05
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.810 1.000 14 1996 2017
dbSNP: rs121964868
rs121964868 		1.000 0.080 1 156880036 missense variant C/T snv
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 14 1996 2017
dbSNP: rs121964869
rs121964869 		1.000 0.080 1 156873858 missense variant A/G snv
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 14 1996 2017