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: rs1059362
rs1059362 		6 32580773 synonymous variant G/A snv 7.2E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1059572
rs1059572 		1.000 0.080 6 32584314 missense variant G/A;C;T snv 1.1E-02; 1.8E-05
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1064713
rs1064713 		1.000 0.080 6 32578889 3 prime UTR variant G/A;C;T snv 2.6E-02 2.1E-02
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs113399573
rs113399573 		6 32591382 upstream gene variant C/T snv 0.23
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs113520250
rs113520250 		1.000 0.040 6 32587108 intron variant C/T snv 0.26
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		Hemic and Lymphatic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1136758
rs1136758 		1.000 0.080 6 32584355 missense variant T/A;C;G snv 0.25; 2.7E-02; 4.7E-05; 1.6E-05; 7.6E-03
CUI: C0014070
Disease: Encephalomyelitis
Encephalomyelitis 		Infections; Nervous System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs1136759
rs1136759 		0.882 0.080 6 32584354 missense variant C/A;G;T snv 8.9E-03; 0.23; 1.2E-04
CUI: C0403396
Disease: Steroid-sensitive nephrotic syndrome
Steroid-sensitive nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1136759
rs1136759 		0.882 0.080 6 32584354 missense variant C/A;G;T snv 8.9E-03; 0.23; 1.2E-04
CUI: C0403397
Disease: Steroid-resistant nephrotic syndrome
Steroid-resistant nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1136759
rs1136759 		0.882 0.080 6 32584354 missense variant C/A;G;T snv 8.9E-03; 0.23; 1.2E-04
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
Steroid resistant nephrotic syndrome of childhood 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs115673262
rs115673262 		1.000 0.040 6 32604965 intergenic variant C/G snv
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		Hemic and Lymphatic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs115736757
rs115736757 		1.000 0.040 6 32607947 intergenic variant T/C snv 4.7E-02
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		Hemic and Lymphatic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs116119619
rs116119619 		1.000 0.040 6 32607948 intergenic variant G/A snv 4.7E-02
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		Hemic and Lymphatic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs116763083
rs116763083 		6 32602155 intergenic variant T/A snv 4.4E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs11753207
rs11753207 		1.000 0.040 6 32584671 intron variant A/C snv 0.12
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs11753207
rs11753207 		1.000 0.040 6 32584671 intron variant A/C snv 0.12
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs13191764
rs13191764 		1.000 0.040 6 32602333 intergenic variant T/A snv 4.8E-02
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		Hemic and Lymphatic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs142790902
rs142790902 		1.000 0.040 6 32582137 intron variant T/C snv 6.0E-02
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs142790902
rs142790902 		1.000 0.040 6 32582137 intron variant T/C snv 6.0E-02
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs144453041
rs144453041 		1.000 0.040 6 32605248 intergenic variant A/G snv
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		Hemic and Lymphatic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs144660248
rs144660248 		1.000 0.040 6 32583926 intron variant G/T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs144660248
rs144660248 		1.000 0.040 6 32583926 intron variant G/T snv
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs16822805
rs16822805 		1.000 0.080 6 32584172 missense variant C/A;G;T snv 6.1E-04; 7.6E-03
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2000 2000
dbSNP: rs17191234
rs17191234 		1.000 0.040 6 32596904 intergenic variant A/C snv 0.34
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		Hemic and Lymphatic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs17425622
rs17425622 		1.000 0.040 6 32604184 intergenic variant T/C snv 0.13
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs17878703
rs17878703 		0.882 0.080 6 32584360 missense variant G/A;C;T snv 2.6E-02; 5.7E-04; 0.18; 1.3E-05
CUI: C0403397
Disease: Steroid-resistant nephrotic syndrome
Steroid-resistant nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018