Source: BEFREE

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: rs187115
rs187115
CD44
0.695 0.320 11 35154612 intron variant T/C snv 0.37
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.040 0.750 4 2016 2019
dbSNP: rs187115
rs187115
CD44
0.695 0.320 11 35154612 intron variant T/C snv 0.37
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.040 0.750 4 2016 2019
dbSNP: rs13347
rs13347
CD44
0.763 0.320 11 35231725 3 prime UTR variant C/A;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 1.000 3 2016 2016
dbSNP: rs13347
rs13347
CD44
0.763 0.320 11 35231725 3 prime UTR variant C/A;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 1.000 3 2016 2016
dbSNP: rs13347
rs13347
CD44
0.763 0.320 11 35231725 3 prime UTR variant C/A;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 0.667 3 2012 2018
dbSNP: rs13347
rs13347
CD44
0.763 0.320 11 35231725 3 prime UTR variant C/A;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 0.667 3 2012 2018
dbSNP: rs11821102
rs11821102
CD44
11 35230997 3 prime UTR variant G/A snv 6.8E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 1.000 2 2016 2016
dbSNP: rs11821102
rs11821102
CD44
11 35230997 3 prime UTR variant G/A snv 6.8E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 1.000 2 2016 2016
dbSNP: rs1322648460
rs1322648460
CD44 ; LOC100507144
0.776 0.320 11 35139332 frameshift variant G/- delins
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 1.000 2 2011 2013
dbSNP: rs13347
rs13347
CD44
0.763 0.320 11 35231725 3 prime UTR variant C/A;T snv
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		0.020 1.000 2 2013 2014
dbSNP: rs187115
rs187115
CD44
0.695 0.320 11 35154612 intron variant T/C snv 0.37
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 1.000 2 2015 2019
dbSNP: rs187115
rs187115
CD44
0.695 0.320 11 35154612 intron variant T/C snv 0.37
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 1.000 2 2019 2019
dbSNP: rs187115
rs187115
CD44
0.695 0.320 11 35154612 intron variant T/C snv 0.37
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.020 1.000 2 2019 2019
dbSNP: rs713330
rs713330
CD44
1.000 0.040 11 35202398 intron variant C/T snv 0.74
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 < 0.001 2 2016 2016
dbSNP: rs713330
rs713330
CD44
1.000 0.040 11 35202398 intron variant C/T snv 0.74
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 < 0.001 2 2016 2016
dbSNP: rs942517370
rs942517370
CD44
0.925 0.080 11 35201757 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C0002876
Disease: Congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia 		0.020 1.000 2 2013 2019
dbSNP: rs1046910653
rs1046910653
CD44
0.925 0.040 11 35206151 missense variant C/T snv
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		0.010 1.000 1 2002 2002
dbSNP: rs1046910653
rs1046910653
CD44
0.925 0.040 11 35206151 missense variant C/T snv
CUI: C1504412
Disease: Testotoxicosis
Testotoxicosis 		0.010 1.000 1 2002 2002
dbSNP: rs10836347
rs10836347
CD44
1.000 0.080 11 35231586 3 prime UTR variant C/T snv 0.11
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 < 0.001 1 2016 2016
dbSNP: rs10836347
rs10836347
CD44
1.000 0.080 11 35231586 3 prime UTR variant C/T snv 0.11
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs10836347
rs10836347
CD44
1.000 0.080 11 35231586 3 prime UTR variant C/T snv 0.11
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 < 0.001 1 2016 2016
dbSNP: rs115214213
rs115214213
CD44
1.000 0.120 11 35231896 3 prime UTR variant T/C snv 4.9E-03
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs1322648460
rs1322648460
CD44 ; LOC100507144
0.776 0.320 11 35139332 frameshift variant G/- delins
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2016 2016
dbSNP: rs1322648460
rs1322648460
CD44 ; LOC100507144
0.776 0.320 11 35139332 frameshift variant G/- delins
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.010 1.000 1 2011 2011
dbSNP: rs1322648460
rs1322648460
CD44 ; LOC100507144
0.776 0.320 11 35139332 frameshift variant G/- delins
CUI: C0023492
Disease: Leukemia, T-Cell
Leukemia, T-Cell 		0.010 1.000 1 2008 2008