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: rs1028911
rs1028911 		0.925 0.040 6 8706288 intron variant T/C;G snv
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1028911
rs1028911 		0.925 0.040 6 8706288 intron variant T/C;G snv
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs11243290
rs11243290 		1.000 0.080 6 9000190 intron variant A/C;G snv
CUI: C0002170
Disease: Alopecia
Alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1576263
rs1576263 		1.000 0.040 6 8689984 intron variant G/T snv 0.48
CUI: C1863416
Disease: Autosomal dominant compelling helio ophthalmic outburst syndrome
Autosomal dominant compelling helio ophthalmic outburst syndrome 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2016 2016
dbSNP: rs182482821
rs182482821 		6 8536139 intron variant G/C snv 6.1E-04
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2015 2015
dbSNP: rs184686040
rs184686040 		6 8450770 intron variant T/G snv 1.1E-02
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2015 2015
dbSNP: rs185751587
rs185751587 		6 8816262 intron variant G/A snv 7.0E-05
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2015 2015
dbSNP: rs72820264
rs72820264 		0.925 0.080 6 9291650 intron variant T/C snv 0.15
CUI: C4551854
Disease: HYPOPLASTIC LEFT HEART SYNDROME 1
HYPOPLASTIC LEFT HEART SYNDROME 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2017 2017
dbSNP: rs72820264
rs72820264 		0.925 0.080 6 9291650 intron variant T/C snv 0.15
CUI: C3280795
Disease: HYPOPLASTIC LEFT HEART SYNDROME 2
HYPOPLASTIC LEFT HEART SYNDROME 2 		0.700 1.000 1 2017 2017
dbSNP: rs80011011
rs80011011 		6 8664924 intron variant G/A snv 2.2E-03
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		Behavior and Behavior Mechanisms 0.700 1.000 1 2015 2015
dbSNP: rs80011011
rs80011011 		6 8664924 intron variant G/A snv 2.2E-03
CUI: C0037369
Disease: Smoking
Smoking 		Behavior and Behavior Mechanisms 0.700 1.000 1 2015 2015
dbSNP: rs7763881
rs7763881 		0.776 0.160 6 8653014 non coding transcript exon variant A/C snv 0.44
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2012 2019
dbSNP: rs7763881
rs7763881 		0.776 0.160 6 8653014 non coding transcript exon variant A/C snv 0.44
CUI: C0206677
Disease: Adenomatous Polyps
Adenomatous Polyps 		Neoplasms 0.010 < 0.001 1 2017 2017
dbSNP: rs7763881
rs7763881 		0.776 0.160 6 8653014 non coding transcript exon variant A/C snv 0.44
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs7763881
rs7763881 		0.776 0.160 6 8653014 non coding transcript exon variant A/C snv 0.44
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs7763881
rs7763881 		0.776 0.160 6 8653014 non coding transcript exon variant A/C snv 0.44
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs7763881
rs7763881 		0.776 0.160 6 8653014 non coding transcript exon variant A/C snv 0.44
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs7763881
rs7763881 		0.776 0.160 6 8653014 non coding transcript exon variant A/C snv 0.44
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs7763881
rs7763881 		0.776 0.160 6 8653014 non coding transcript exon variant A/C snv 0.44
CUI: C1862382
Disease: SVEINSSON CHORIORETINAL ATROPHY
SVEINSSON CHORIORETINAL ATROPHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2017 2017
dbSNP: rs7763881
rs7763881 		0.776 0.160 6 8653014 non coding transcript exon variant A/C snv 0.44
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs7763881
rs7763881 		0.776 0.160 6 8653014 non coding transcript exon variant A/C snv 0.44
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2017 2017
dbSNP: rs7763881
rs7763881 		0.776 0.160 6 8653014 non coding transcript exon variant A/C snv 0.44
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015