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: rs397514632
rs397514632 		0.827 0.160 19 50406456 missense variant G/A snv
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.800 1.000 6 2013 2015
dbSNP: rs587777627
rs587777627 		0.807 0.080 19 50406444 missense variant T/C snv
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.800 1.000 4 2006 2016
dbSNP: rs587777627
rs587777627 		0.807 0.080 19 50406444 missense variant T/C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 4 2006 2017
dbSNP: rs398122386
rs398122386 		1.000 19 50408818 inframe deletion CTC/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 3 2013 2015
dbSNP: rs398122386
rs398122386 		1.000 19 50408818 inframe deletion CTC/- delins
CUI: C3715192
Disease: ANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME
ANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME 		0.700 0
dbSNP: rs1052677
rs1052677 		1.000 0.040 19 50382924 3 prime UTR variant C/G;T snv 0.45
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		Infections 0.010 1.000 1 2014 2014
dbSNP: rs1673041
rs1673041 		19 50406132 intron variant T/A;G snv 0.73 0.79
CUI: C0085136
Disease: Central Nervous System Neoplasms
Central Nervous System Neoplasms 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1726801
rs1726801 		0.851 0.080 19 50401817 missense variant G/A snv 0.11 0.14
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1726801
rs1726801 		0.851 0.080 19 50401817 missense variant G/A snv 0.11 0.14
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1726801
rs1726801 		0.851 0.080 19 50401817 missense variant G/A snv 0.11 0.14
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1726801
rs1726801 		0.851 0.080 19 50401817 missense variant G/A snv 0.11 0.14
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs397514632
rs397514632 		0.827 0.160 19 50406456 missense variant G/A snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2020 2020
dbSNP: rs397514632
rs397514632 		0.827 0.160 19 50406456 missense variant G/A snv
CUI: C0334108
Disease: Multiple polyps
Multiple polyps 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2015 2015
dbSNP: rs397514632
rs397514632 		0.827 0.160 19 50406456 missense variant G/A snv
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2013 2013
dbSNP: rs397514632
rs397514632 		0.827 0.160 19 50406456 missense variant G/A snv
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2013 2013
dbSNP: rs587777627
rs587777627 		0.807 0.080 19 50406444 missense variant T/C snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs587777627
rs587777627 		0.807 0.080 19 50406444 missense variant T/C snv
CUI: C0751396
Disease: Well Differentiated Oligodendroglioma
Well Differentiated Oligodendroglioma 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs587777627
rs587777627 		0.807 0.080 19 50406444 missense variant T/C snv
CUI: C0280475
Disease: Childhood Oligodendroglioma
Childhood Oligodendroglioma 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs587777627
rs587777627 		0.807 0.080 19 50406444 missense variant T/C snv
CUI: C0028945
Disease: oligodendroglioma
oligodendroglioma 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs587777627
rs587777627 		0.807 0.080 19 50406444 missense variant T/C snv
CUI: C0279070
Disease: Adult Oligodendroglioma
Adult Oligodendroglioma 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs747628342
rs747628342 		19 50409577 missense variant C/T snv 8.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs767449295
rs767449295 		0.925 0.080 19 50402669 missense variant C/T snv 1.7E-05 2.8E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs767449295
rs767449295 		0.925 0.080 19 50402669 missense variant C/T snv 1.7E-05 2.8E-05
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2014 2014
dbSNP: rs777018011
rs777018011 		1.000 0.080 19 50417229 missense variant C/T snv 8.5E-06
CUI: C0024312
Disease: Lymphopenia
Lymphopenia 		Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2020 2020