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: 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
dbSNP: rs1553263326
rs1553263326 		1.000 1 156881446 intron variant G/A 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: 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: rs775984846
rs775984846 		1.000 1 156881535 missense variant G/A;C snv 3.5E-05
CUI: C1833929
Disease: THYROID CARCINOMA, SPORADIC MEDULLARY
THYROID CARCINOMA, SPORADIC MEDULLARY 		0.020 1.000 2 2006 2008
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: 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: 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: 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: 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: 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: 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: 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: 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: 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