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: rs121434410
rs121434410
1.000 0.040 2 178436264 missense variant G/A snv 9.9E-05 9.1E-05
CUI: C2677567
Disease: DYSTONIA 16 (disorder)
DYSTONIA 16 (disorder)
Nervous System Diseases 0.800 1.000 5 2008 2016
dbSNP: rs9283487
rs9283487
1.000 0.080 2 178431544 3 prime UTR variant T/C snv
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
Immune System Diseases; Nervous System Diseases 0.800 1.000 1 2013 2013
dbSNP: rs10930831
rs10930831
2 178439249 non coding transcript exon variant G/A;C snv
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
dbSNP: rs62176107
rs62176107
0.925 0.120 2 178436244 missense variant G/A;T snv
CUI: C0033860
Disease: Psoriasis
Psoriasis
Skin and Connective Tissue Diseases 0.700 1.000 1 2015 2015
dbSNP: rs62176107
rs62176107
0.925 0.120 2 178436244 missense variant G/A;T snv
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs75862065
rs75862065
2 178444438 missense variant G/A snv 5.1E-05
High density lipoprotein measurement
0.700 1.000 1 2017 2017
dbSNP: rs730880307
rs730880307
1.000 0.040 2 178447554 frameshift variant AT/- delins 4.0E-06
CUI: C2677567
Disease: DYSTONIA 16 (disorder)
DYSTONIA 16 (disorder)
Nervous System Diseases 0.700 0
dbSNP: rs121434410
rs121434410
1.000 0.040 2 178436264 missense variant G/A snv 9.9E-05 9.1E-05
CUI: C0013421
Disease: Dystonia
Dystonia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs121434410
rs121434410
1.000 0.040 2 178436264 missense variant G/A snv 9.9E-05 9.1E-05
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1265889947
rs1265889947
1.000 0.040 2 178450382 missense variant C/G snv 7.0E-06
CUI: C1997740
Disease: Segmental dystonia
Segmental dystonia
Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1967327
rs1967327
0.925 0.080 2 178449632 intron variant G/A;C;T snv
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs1967327
rs1967327
0.925 0.080 2 178449632 intron variant G/A;C;T snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs2059691
rs2059691
0.882 0.080 2 178437157 intron variant A/G snv 0.72
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs2059691
rs2059691
0.882 0.080 2 178437157 intron variant A/G snv 0.72
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs2059691
rs2059691
0.882 0.080 2 178437157 intron variant A/G snv 0.72
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017