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: rs6010620
rs6010620 		0.701 0.360 20 63678486 intron variant A/C;G snv
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.900 0.952 21 2009 2020
dbSNP: rs398123018
rs398123018 		0.925 0.120 20 63693160 missense variant C/A;G;T snv 1.2E-05; 4.0E-06; 4.0E-05
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.800 1.000 6 2013 2017
dbSNP: rs1470145133
rs1470145133 		1.000 20 63693183 missense variant T/G snv 4.0E-06
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 1.000 5 2013 2013
dbSNP: rs398123016
rs398123016 		1.000 20 63690161 missense variant G/T snv
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 1.000 5 2013 2013
dbSNP: rs398123017
rs398123017 		0.851 0.160 20 63693211 stop gained C/A;G;T snv 4.0E-06; 3.2E-05
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 1.000 5 2013 2017
dbSNP: rs398123019
rs398123019 		1.000 20 63672607 missense variant G/A snv
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 1.000 5 2013 2013
dbSNP: rs6010620
rs6010620 		0.701 0.360 20 63678486 intron variant A/C;G snv
CUI: C0085136
Disease: Central Nervous System Neoplasms
Central Nervous System Neoplasms 		Neoplasms; Nervous System Diseases 0.800 1.000 5 2009 2014
dbSNP: rs373740199
rs373740199 		0.851 0.120 20 63693247 stop gained C/A;T snv 8.0E-06; 7.2E-05
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		0.700 1.000 4 2013 2017
dbSNP: rs373740199
rs373740199 		0.851 0.120 20 63693247 stop gained C/A;T snv 8.0E-06; 7.2E-05
CUI: C4225346
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		0.700 1.000 4 2013 2017
dbSNP: rs398123017
rs398123017 		0.851 0.160 20 63693211 stop gained C/A;G;T snv 4.0E-06; 3.2E-05
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.700 1.000 4 2013 2015
dbSNP: rs398123017
rs398123017 		0.851 0.160 20 63693211 stop gained C/A;G;T snv 4.0E-06; 3.2E-05
CUI: C4225346
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		0.700 1.000 4 2013 2017
dbSNP: rs398123018
rs398123018 		0.925 0.120 20 63693160 missense variant C/A;G;T snv 1.2E-05; 4.0E-06; 4.0E-05
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.700 1.000 3 2013 2014
dbSNP: rs6010620
rs6010620 		0.701 0.360 20 63678486 intron variant A/C;G snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		Neoplasms 0.030 1.000 3 2011 2020
dbSNP: rs6010620
rs6010620 		0.701 0.360 20 63678486 intron variant A/C;G snv
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases 0.810 0.667 3 2011 2015
dbSNP: rs1555899111
rs1555899111 		1.000 0.120 20 63659506 splice donor variant T/C snv
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.700 1.000 2 2013 2014
dbSNP: rs2297441
rs2297441 		0.807 0.160 20 63696229 3 prime UTR variant G/A;C snv
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.710 1.000 2 2008 2009
dbSNP: rs6010620
rs6010620 		0.701 0.360 20 63678486 intron variant A/C;G snv
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		Neoplasms 0.020 1.000 2 2011 2015
dbSNP: rs6010620
rs6010620 		0.701 0.360 20 63678486 intron variant A/C;G snv
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.020 0.500 2 2010 2012
dbSNP: rs6010620
rs6010620 		0.701 0.360 20 63678486 intron variant A/C;G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.020 1.000 2 2010 2012
dbSNP: rs146221660
rs146221660 		0.925 0.040 20 63693248 missense variant G/A;T snv 2.8E-05; 4.0E-06
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		Respiratory Tract Diseases 0.700 1.000 1 2015 2015
dbSNP: rs2236507
rs2236507 		1.000 0.040 20 63691653 intron variant G/C;T snv
CUI: C0085136
Disease: Central Nervous System Neoplasms
Central Nervous System Neoplasms 		Neoplasms; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs2236507
rs2236507 		1.000 0.040 20 63691653 intron variant G/C;T snv
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.700 1.000 1 2015 2015
dbSNP: rs2297441
rs2297441 		0.807 0.160 20 63696229 3 prime UTR variant G/A;C snv
CUI: C0340100
Disease: High altitude pulmonary edema
High altitude pulmonary edema 		Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2297441
rs2297441 		0.807 0.160 20 63696229 3 prime UTR variant G/A;C snv
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2297441
rs2297441 		0.807 0.160 20 63696229 3 prime UTR variant G/A;C snv
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2014 2014