CD44, CD44 molecule (Indian blood group), 960

N. diseases: 711; N. variants: 47
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: rs11821102
rs11821102
11 35230997 3 prime UTR variant G/A snv 6.8E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.020 1.000 2 2016 2016
dbSNP: rs11821102
rs11821102
11 35230997 3 prime UTR variant G/A snv 6.8E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
Neoplasms 0.020 1.000 2 2016 2016
dbSNP: rs11033026
rs11033026
11 35201756 synonymous variant G/A snv 2.2E-02 8.8E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.700 1.000 1 2012 2012
dbSNP: rs12275533
rs12275533
11 35149480 intron variant G/A snv 2.2E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs353616
rs353616
11 35155029 intron variant A/C snv 1.9E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs353616
rs353616
11 35155029 intron variant A/C snv 1.9E-02
High density lipoprotein measurement
0.700 1.000 1 2012 2012
dbSNP: rs7131335
rs7131335
11 35177114 intron variant T/C snv 2.7E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs7131335
rs7131335
11 35177114 intron variant T/C snv 2.7E-02
High density lipoprotein measurement
0.700 1.000 1 2012 2012
dbSNP: rs187115
rs187115
0.695 0.320 11 35154612 intron variant T/C snv 0.37
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.040 0.750 4 2016 2019
dbSNP: rs187115
rs187115
0.695 0.320 11 35154612 intron variant T/C snv 0.37
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
Neoplasms 0.040 0.750 4 2016 2019
dbSNP: rs187115
rs187115
0.695 0.320 11 35154612 intron variant T/C snv 0.37
Malignant neoplasm of colon and/or rectum
0.020 1.000 2 2019 2019
dbSNP: rs187115
rs187115
0.695 0.320 11 35154612 intron variant T/C snv 0.37
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.020 1.000 2 2015 2019
dbSNP: rs187115
rs187115
0.695 0.320 11 35154612 intron variant T/C snv 0.37
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.020 1.000 2 2019 2019
dbSNP: rs187115
rs187115
0.695 0.320 11 35154612 intron variant T/C snv 0.37
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma
Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs187115
rs187115
0.695 0.320 11 35154612 intron variant T/C snv 0.37
Secondary malignant neoplasm of bone
Pathological Conditions, Signs and Symptoms; Neoplasms; Musculoskeletal Diseases 0.010 1.000 1 2015 2015
dbSNP: rs187115
rs187115
0.695 0.320 11 35154612 intron variant T/C snv 0.37
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs187115
rs187115
0.695 0.320 11 35154612 intron variant T/C snv 0.37
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs187115
rs187115
0.695 0.320 11 35154612 intron variant T/C snv 0.37
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver
Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs187115
rs187115
0.695 0.320 11 35154612 intron variant T/C snv 0.37
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs187115
rs187115
0.695 0.320 11 35154612 intron variant T/C snv 0.37
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth
Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs187115
rs187115
0.695 0.320 11 35154612 intron variant T/C snv 0.37
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs187115
rs187115
0.695 0.320 11 35154612 intron variant T/C snv 0.37
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs187115
rs187115
0.695 0.320 11 35154612 intron variant T/C snv 0.37
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs187115
rs187115
0.695 0.320 11 35154612 intron variant T/C snv 0.37
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs187115
rs187115
0.695 0.320 11 35154612 intron variant T/C snv 0.37
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
Neoplasms 0.010 1.000 1 2014 2014