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: 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: rs926103
rs926103 		0.925 0.120 1 156815190 missense variant T/C snv 0.64 0.57
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		Endocrine 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: 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: rs12756019
rs12756019 		1 156830120 intron variant G/A snv 0.53
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2011 2011
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: 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: rs10908521
rs10908521 		1 156843858 intron variant T/C snv 0.31
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2017 2017
dbSNP: rs80356673
rs80356673 		1.000 0.080 1 156860959 stop gained C/A;T snv
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
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: rs398122810
rs398122810 		1.000 0.080 1 156861141 frameshift variant TG/- del 7.0E-06
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
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: rs543320028
rs543320028 		0.925 0.160 1 156864394 missense variant C/A;T snv 4.0E-06; 1.2E-05
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs540521894
rs540521894 		1.000 0.040 1 156864760 missense variant C/A;T snv 4.0E-06; 5.6E-05 2.1E-05
CUI: C1335177
Disease: Ovarian Serous Adenocarcinoma
Ovarian Serous Adenocarcinoma 		Neoplasms 0.700 0
dbSNP: rs797045059
rs797045059 		1.000 0.080 1 156866908 splice acceptor variant A/C snv
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2016 2016
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: rs778056858
rs778056858 		1.000 0.080 1 156866944 missense variant T/C snv 8.0E-06 7.0E-06
CUI: C0030193
Disease: Pain
Pain 		Pathological Conditions, Signs and Symptoms 0.020 1.000 2 2010 2011
dbSNP: rs370483210
rs370483210 		1.000 0.080 1 156866974 stop gained G/A;T snv 2.8E-05 2.7E-04
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
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: rs748653984
rs748653984 		1.000 0.080 1 156868159 missense variant T/A;C snv 4.0E-06; 4.0E-06
CUI: C0030193
Disease: Pain
Pain 		Pathological Conditions, Signs and Symptoms 0.020 1.000 2 2010 2011
dbSNP: rs879253889
rs879253889 		1.000 0.080 1 156868201 stop gained C/T snv
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1026300967
rs1026300967 		1.000 1 156868246 missense variant T/C snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 3 2012 2017
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