Source: CURATED

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: rs1260326
rs1260326
0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.700 1.000 2 2015 2017
dbSNP: rs1260326
rs1260326
0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 2 2019 2019
dbSNP: rs1260326
rs1260326
0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.700 1.000 2 2016 2017
dbSNP: rs1260326
rs1260326
0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68
RDW - Red blood cell distribution width result
0.700 1.000 2 2016 2019
dbSNP: rs1260326
rs1260326
0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68
CUI: C0201874
Disease: Amino acids measurement
Amino acids measurement
0.700 1.000 2 2016 2016
dbSNP: rs1260326
rs1260326
0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68
Red cell distribution width determination
0.700 1.000 2 2016 2019
dbSNP: rs1260326
rs1260326
0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68
CUI: C0202177
Disease: Phospholipid measurement
Phospholipid measurement
0.700 1.000 1 2011 2011
dbSNP: rs1260326
rs1260326
0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68
CUI: C0424678
Disease: Lean body mass
Lean body mass
0.700 1.000 1 2019 2019
dbSNP: rs1260326
rs1260326
0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68
CUI: C0019163
Disease: Hepatitis B
Hepatitis B
0.700 1.000 1 2011 2011
dbSNP: rs1260326
rs1260326
0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68
High density lipoprotein measurement
0.700 1.000 1 2008 2008
dbSNP: rs1260326
rs1260326
0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.700 1.000 1 2016 2016
dbSNP: rs1260326
rs1260326
0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.700 1.000 1 2016 2016
dbSNP: rs1260326
rs1260326
0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
0.700 1.000 1 2010 2010
dbSNP: rs1260326
rs1260326
0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68
CUI: C0236970
Disease: Alcohol-Induced Disorders
Alcohol-Induced Disorders
0.700 1.000 1 2019 2019
dbSNP: rs1260326
rs1260326
0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
0.700 1.000 1 2019 2019
dbSNP: rs1260326
rs1260326
0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68
CUI: C1168443
Disease: Pseudocholinesterase Measurement
Pseudocholinesterase Measurement
0.700 1.000 1 2011 2011
dbSNP: rs1260326
rs1260326
0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure)
0.700 1.000 1 2016 2016
dbSNP: rs1260326
rs1260326
0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68
CUI: C0202115
Disease: Lactic acid measurement
Lactic acid measurement
0.700 1.000 1 2016 2016
dbSNP: rs1260326
rs1260326
0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement
0.700 1.000 1 2016 2016
dbSNP: rs1260326
rs1260326
0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68
CUI: C0337443
Disease: Sodium measurement
Sodium measurement
0.700 1.000 1 2019 2019
dbSNP: rs1260326
rs1260326
0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68
CUI: C0451641
Disease: Urolithiasis
Urolithiasis
0.700 1.000 1 2019 2019
dbSNP: rs1260326
rs1260326
0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 1.000 1 2016 2016
dbSNP: rs1260326
rs1260326
0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68
CUI: C0728877
Disease: Serum albumin level
Serum albumin level
0.700 1.000 1 2012 2012
dbSNP: rs1260326
rs1260326
0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68
CUI: C0236664
Disease: Alcohol-Related Disorders
Alcohol-Related Disorders
0.700 1.000 1 2019 2019
dbSNP: rs1260326
rs1260326
0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68
CUI: C2825856
Disease: Factor VII measurement
Factor VII measurement
0.700 1.000 1 2019 2019