Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1801275
rs1801275
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 1.000 1 2012 2012
dbSNP: rs1801275
rs1801275
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.010 1.000 1 2001 2001
dbSNP: rs1801275
rs1801275
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 1.000 1 2014 2014
dbSNP: rs1801275
rs1801275
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36
CUI: C0014518
Disease: Toxic Epidermal Necrolysis
Toxic Epidermal Necrolysis
0.010 1.000 1 2008 2008
dbSNP: rs1801275
rs1801275
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36
CUI: C1276072
Disease: Adult atopic dermatitis
Adult atopic dermatitis
0.010 1.000 1 2000 2000
dbSNP: rs1801275
rs1801275
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36
Malignant neoplasm of gastrointestinal tract
0.010 1.000 1 2017 2017
dbSNP: rs1801275
rs1801275
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36
CUI: C0264408
Disease: Childhood asthma
Childhood asthma
0.010 1.000 1 2016 2016
dbSNP: rs1801275
rs1801275
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 1.000 1 2014 2014
dbSNP: rs1801275
rs1801275
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36
CUI: C0275518
Disease: Acute infectious disease
Acute infectious disease
0.010 1.000 1 2013 2013
dbSNP: rs1801275
rs1801275
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36
CUI: C4048329
Disease: Immunosuppression
Immunosuppression
0.010 1.000 1 2014 2014
dbSNP: rs1801275
rs1801275
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36
CUI: C0043207
Disease: Wolfram Syndrome
Wolfram Syndrome
0.010 1.000 1 2012 2012
dbSNP: rs1801275
rs1801275
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.010 1.000 1 2007 2007
dbSNP: rs1801275
rs1801275
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36
CUI: C0036391
Disease: Schwartz-Jampel Syndrome
Schwartz-Jampel Syndrome
0.010 1.000 1 2008 2008
dbSNP: rs1801275
rs1801275
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.010 1.000 1 2015 2015
dbSNP: rs1801275
rs1801275
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma
0.010 1.000 1 2016 2016
dbSNP: rs1801275
rs1801275
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36
CUI: C1148477
Disease: Deafness, Sudden
Deafness, Sudden
0.010 1.000 1 2006 2006
dbSNP: rs1801275
rs1801275
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.010 1.000 1 2016 2016
dbSNP: rs1801275
rs1801275
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36
CUI: C0947961
Disease: Atopic disorders
Atopic disorders
0.010 1.000 1 2003 2003
dbSNP: rs1801275
rs1801275
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.010 1.000 1 2009 2009
dbSNP: rs1801275
rs1801275
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
0.010 1.000 1 2012 2012
dbSNP: rs1801275
rs1801275
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
0.010 1.000 1 2012 2012
dbSNP: rs1801275
rs1801275
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36
CUI: C3899278
Disease: Early Rheumatoid Arthritis
Early Rheumatoid Arthritis
0.010 1.000 1 2010 2010
dbSNP: rs1801275
rs1801275
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36
CUI: C0024899
Disease: Mastocytosis
Mastocytosis
0.010 1.000 1 2001 2001
dbSNP: rs1801275
rs1801275
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36
Diabetes Mellitus, Insulin-Dependent
0.010 1.000 1 2009 2009
dbSNP: rs1801275
rs1801275
0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36
CUI: C0031099
Disease: Periodontitis
Periodontitis
0.010 1.000 1 2011 2011