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: rs13181
rs13181
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.010 < 0.001 1 2018 2018
dbSNP: rs13181
rs13181
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C2936904
Disease: Opitz GBBB Syndrome, X-Linked
Opitz GBBB Syndrome, X-Linked
0.010 < 0.001 1 2017 2017
dbSNP: rs13181
rs13181
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
0.010 < 0.001 1 2013 2013
dbSNP: rs13181
rs13181
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0153392
Disease: Malignant neoplasm of nasopharynx
Malignant neoplasm of nasopharynx
0.010 < 0.001 1 2014 2014
dbSNP: rs13181
rs13181
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.010 < 0.001 1 2010 2010
dbSNP: rs13181
rs13181
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
Steroid Sulfatase Deficiency Disease
0.010 < 0.001 1 2013 2013
dbSNP: rs13181
rs13181
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0238301
Disease: Cancer of Nasopharynx
Cancer of Nasopharynx
0.010 < 0.001 1 2014 2014
dbSNP: rs13181
rs13181
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked
0.010 < 0.001 1 2013 2013
dbSNP: rs13181
rs13181
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
Early infantile epileptic encephalopathy with suppression bursts
0.010 < 0.001 1 2017 2017
dbSNP: rs13181
rs13181
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth
0.030 0.333 3 2007 2013
dbSNP: rs13181
rs13181
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma
0.030 0.333 3 2007 2013
dbSNP: rs13181
rs13181
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma
0.040 0.500 4 2011 2014
dbSNP: rs13181
rs13181
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm
0.040 0.500 4 2011 2014
dbSNP: rs13181
rs13181
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin
0.020 0.500 2 2005 2014
dbSNP: rs13181
rs13181
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms
0.020 0.500 2 2008 2014
dbSNP: rs13181
rs13181
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
0.020 0.500 2 2008 2014
dbSNP: rs13181
rs13181
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus
0.020 0.500 2 2008 2014
dbSNP: rs13181
rs13181
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
0.050 0.600 5 2013 2017
dbSNP: rs13181
rs13181
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.080 0.625 8 2012 2018
dbSNP: rs13181
rs13181
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma
0.080 0.625 8 2012 2018
dbSNP: rs13181
rs13181
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone
0.080 0.625 8 2012 2018
dbSNP: rs13181
rs13181
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
Experimental Organism Basal Cell Carcinoma
0.030 0.667 3 1999 2005
dbSNP: rs13181
rs13181
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.030 0.667 3 2013 2018
dbSNP: rs13181
rs13181
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell
0.030 0.667 3 1999 2005
dbSNP: rs13181
rs13181
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.030 0.667 3 2013 2015