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: rs1805329
rs1805329
0.732 0.400 9 107322047 missense variant C/T snv 0.20 0.16
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.020 0.500 2 2009 2014
dbSNP: rs1805329
rs1805329
0.732 0.400 9 107322047 missense variant C/T snv 0.20 0.16
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
Neoplasms 0.020 0.500 2 2009 2014
dbSNP: rs10739234
rs10739234
0.925 0.080 9 107285035 intron variant A/G snv 0.75
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs10739234
rs10739234
0.925 0.080 9 107285035 intron variant A/G snv 0.75
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1805329
rs1805329
0.732 0.400 9 107322047 missense variant C/T snv 0.20 0.16
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1805329
rs1805329
0.732 0.400 9 107322047 missense variant C/T snv 0.20 0.16
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms
Digestive System Diseases; Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs1805329
rs1805329
0.732 0.400 9 107322047 missense variant C/T snv 0.20 0.16
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1805329
rs1805329
0.732 0.400 9 107322047 missense variant C/T snv 0.20 0.16
CUI: C0024301
Disease: Lymphoma, Follicular
Lymphoma, Follicular
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1805329
rs1805329
0.732 0.400 9 107322047 missense variant C/T snv 0.20 0.16
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1805329
rs1805329
0.732 0.400 9 107322047 missense variant C/T snv 0.20 0.16
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1805329
rs1805329
0.732 0.400 9 107322047 missense variant C/T snv 0.20 0.16
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group A
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1805329
rs1805329
0.732 0.400 9 107322047 missense variant C/T snv 0.20 0.16
Xeroderma Pigmentosum, Complementation Group D
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1805329
rs1805329
0.732 0.400 9 107322047 missense variant C/T snv 0.20 0.16
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1805329
rs1805329
0.732 0.400 9 107322047 missense variant C/T snv 0.20 0.16
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1805329
rs1805329
0.732 0.400 9 107322047 missense variant C/T snv 0.20 0.16
Malignant neoplasm of urinary bladder
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1805329
rs1805329
0.732 0.400 9 107322047 missense variant C/T snv 0.20 0.16
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus
Digestive System Diseases; Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs1805329
rs1805329
0.732 0.400 9 107322047 missense variant C/T snv 0.20 0.16
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs372514872
rs372514872
1.000 0.080 9 107322086 missense variant C/T snv 2.0E-05 3.5E-05
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2011 2011