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: rs121913279
rs121913279
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.820 1.000 4 2005 2016
dbSNP: rs121913279
rs121913279
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.800 0.909 22 2006 2019
dbSNP: rs121913279
rs121913279
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.800 1.000 20 2006 2019
dbSNP: rs104886003
rs104886003
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
Megalencephaly cutis marmorata telangiectatica congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.800 1.000 2 2012 2016
dbSNP: rs104886003
rs104886003
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.800 1.000 2 2005 2005
dbSNP: rs121913274
rs121913274
0.645 0.320 3 179218304 missense variant A/C;G;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
Digestive System Diseases; Neoplasms 0.800 1.000 2 2005 2016
dbSNP: rs397514565
rs397514565
0.882 0.240 3 179204576 missense variant G/A snv
Megalencephaly cutis marmorata telangiectatica congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.800 1.000 2 2012 2016
dbSNP: rs863225460
rs863225460
0.882 0.200 3 179199160 missense variant T/A snv
Megalencephaly cutis marmorata telangiectatica congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.800 1.000 2 2012 2016
dbSNP: rs104886003
rs104886003
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
Skin and Connective Tissue Diseases 0.800 1.000 1 2007 2007
dbSNP: rs121913272
rs121913272
0.752 0.400 3 179210192 missense variant T/C;G snv
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 1 2012 2012
dbSNP: rs121913272
rs121913272
0.752 0.400 3 179210192 missense variant T/C;G snv
CUI: C2751313
Disease: CLAPO Syndrome
CLAPO Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.800 1.000 1 2018 2018
dbSNP: rs121913279
rs121913279
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
Skin and Connective Tissue Diseases 0.800 1.000 1 2007 2007
dbSNP: rs121913279
rs121913279
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 1 2012 2012
dbSNP: rs121913279
rs121913279
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C2751313
Disease: CLAPO Syndrome
CLAPO Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.800 1.000 1 2018 2018
dbSNP: rs587776932
rs587776932
0.925 0.280 3 179230077 missense variant G/A snv
Megalencephaly cutis marmorata telangiectatica congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.800 1.000 1 2012 2012
dbSNP: rs587777790
rs587777790
0.732 0.280 3 179199690 missense variant G/A snv
CUI: C3554518
Disease: COWDEN SYNDROME 5
COWDEN SYNDROME 5
0.800 1.000 1 2013 2013
dbSNP: rs587777791
rs587777791
1.000 3 179199740 missense variant G/A snv
CUI: C3554518
Disease: COWDEN SYNDROME 5
COWDEN SYNDROME 5
0.800 1.000 1 2013 2013
dbSNP: rs587777792
rs587777792
1.000 3 179201379 missense variant G/A snv
CUI: C3554518
Disease: COWDEN SYNDROME 5
COWDEN SYNDROME 5
0.800 1.000 1 2013 2013
dbSNP: rs587777793
rs587777793
1.000 3 179204509 missense variant G/A snv
CUI: C3554518
Disease: COWDEN SYNDROME 5
COWDEN SYNDROME 5
0.800 1.000 1 2013 2013
dbSNP: rs587777794
rs587777794
1.000 3 179204588 missense variant G/A snv 7.0E-06
CUI: C3554518
Disease: COWDEN SYNDROME 5
COWDEN SYNDROME 5
0.800 1.000 1 2013 2013
dbSNP: rs121913273
rs121913273
0.605 0.440 3 179218294 missense variant G/A;C snv
CUI: C2751313
Disease: CLAPO Syndrome
CLAPO Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.800 0
dbSNP: rs121913281
rs121913281
0.623 0.520 3 179234296 missense variant C/T snv
Megalencephaly cutis marmorata telangiectatica congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.800 0
dbSNP: rs104886003
rs104886003
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.760 1.000 7 2006 2019
dbSNP: rs121913279
rs121913279
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
Neoplasms; Skin and Connective Tissue Diseases 0.740 1.000 14 2004 2016
dbSNP: rs121913279
rs121913279
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
Digestive System Diseases; Neoplasms 0.730 1.000 4 2008 2019