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: rs118203993
rs118203993 		0.925 0.120 12 121627018 missense variant C/T snv
CUI: C2748568
Disease: Immune dysfunction with T-cell inactivation due to calcium entry defect 1
Immune dysfunction with T-cell inactivation due to calcium entry defect 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.800 1.000 2 2005 2006
dbSNP: rs587777528
rs587777528 		0.851 0.320 12 121641471 missense variant C/T snv
CUI: C4014557
Disease: MYOPATHY, TUBULAR AGGREGATE, 2
MYOPATHY, TUBULAR AGGREGATE, 2 		0.800 1.000 2 2014 2017
dbSNP: rs786204796
rs786204796 		1.000 12 121627039 missense variant G/A;C snv 4.2E-06
CUI: C4014557
Disease: MYOPATHY, TUBULAR AGGREGATE, 2
MYOPATHY, TUBULAR AGGREGATE, 2 		0.800 1.000 2 2014 2017
dbSNP: rs782472239
rs782472239 		1.000 0.040 12 121641369 missense variant C/A snv 2.0E-05 2.1E-05
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs1555322558
rs1555322558 		1.000 0.120 12 121626888 frameshift variant -/CCGCCGCCGCAGCGGGGACGGGGAGCCCCCGGGGGCC ins
CUI: C2748568
Disease: Immune dysfunction with T-cell inactivation due to calcium entry defect 1
Immune dysfunction with T-cell inactivation due to calcium entry defect 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 0
dbSNP: rs1555322610
rs1555322610 		1.000 12 121627037 missense variant C/G snv
CUI: C4014557
Disease: MYOPATHY, TUBULAR AGGREGATE, 2
MYOPATHY, TUBULAR AGGREGATE, 2 		0.700 0
dbSNP: rs782753385
rs782753385 		1.000 0.120 12 121641318 missense variant T/C snv 3.2E-05 3.5E-05
CUI: C2748568
Disease: Immune dysfunction with T-cell inactivation due to calcium entry defect 1
Immune dysfunction with T-cell inactivation due to calcium entry defect 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 0
dbSNP: rs786204797
rs786204797 		1.000 12 121641149 missense variant C/T snv
CUI: C4014557
Disease: MYOPATHY, TUBULAR AGGREGATE, 2
MYOPATHY, TUBULAR AGGREGATE, 2 		0.700 0
dbSNP: rs786205890
rs786205890 		1.000 0.120 12 121641045 missense variant C/A snv
CUI: C2748568
Disease: Immune dysfunction with T-cell inactivation due to calcium entry defect 1
Immune dysfunction with T-cell inactivation due to calcium entry defect 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 0
dbSNP: rs878853261
rs878853261 		1.000 0.120 12 121627005 frameshift variant -/A delins
CUI: C2748568
Disease: Immune dysfunction with T-cell inactivation due to calcium entry defect 1
Immune dysfunction with T-cell inactivation due to calcium entry defect 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 0
dbSNP: rs118203993
rs118203993 		0.925 0.120 12 121627018 missense variant C/T snv
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs12313273
rs12313273 		0.882 0.160 12 121625105 upstream gene variant T/C snv 0.23
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.010 1.000 1 2011 2011
dbSNP: rs12313273
rs12313273 		0.882 0.160 12 121625105 upstream gene variant T/C snv 0.23
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2014 2014
dbSNP: rs12313273
rs12313273 		0.882 0.160 12 121625105 upstream gene variant T/C snv 0.23
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2011 2011
dbSNP: rs12313273
rs12313273 		0.882 0.160 12 121625105 upstream gene variant T/C snv 0.23
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2011 2011
dbSNP: rs587777528
rs587777528 		0.851 0.320 12 121641471 missense variant C/T snv
CUI: C1303009
Disease: Microcoria, congenital
Microcoria, congenital 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs587777528
rs587777528 		0.851 0.320 12 121641471 missense variant C/T snv
CUI: C1861451
Disease: Stormorken Syndrome
Stormorken Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs587777528
rs587777528 		0.851 0.320 12 121641471 missense variant C/T snv
CUI: C0410207
Disease: Tubular Aggregate Myopathy
Tubular Aggregate Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs6486795
rs6486795 		0.925 0.120 12 121638011 intron variant T/C snv 0.26
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2011 2011
dbSNP: rs6486795
rs6486795 		0.925 0.120 12 121638011 intron variant T/C snv 0.26
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2011 2011
dbSNP: rs712853
rs712853 		0.882 0.120 12 121641762 3 prime UTR variant A/G snv 0.36
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs712853
rs712853 		0.882 0.120 12 121641762 3 prime UTR variant A/G snv 0.36
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.010 1.000 1 2011 2011
dbSNP: rs712853
rs712853 		0.882 0.120 12 121641762 3 prime UTR variant A/G snv 0.36
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs7135617
rs7135617 		0.827 0.240 12 121631099 intron variant T/C;G snv
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2011 2011
dbSNP: rs7135617
rs7135617 		0.827 0.240 12 121631099 intron variant T/C;G snv
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		Musculoskeletal Diseases 0.010 1.000 1 2018 2018