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: rs587783627
rs587783627 		1.000 0.120 7 148807666 missense variant T/C snv
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs797045568
rs797045568 		1.000 0.120 7 148809078 frameshift variant -/A delins
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs267601394
rs267601394 		0.807 0.200 7 148811635 missense variant T/A;G snv
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2014 2016
dbSNP: rs267601394
rs267601394 		0.807 0.200 7 148811635 missense variant T/A;G snv
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2014 2016
dbSNP: rs887569
rs887569 		0.882 0.120 7 148808210 intron variant C/T snv 0.73
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.020 1.000 2 2016 2018
dbSNP: rs887569
rs887569 		0.882 0.120 7 148808210 intron variant C/T snv 0.73
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.020 1.000 2 2016 2018
dbSNP: rs10274701
rs10274701 		0.925 0.080 7 148855364 intron variant C/T snv 0.76
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs10274701
rs10274701 		0.925 0.080 7 148855364 intron variant C/T snv 0.76
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1057519833
rs1057519833 		0.925 0.120 7 148809375 missense variant G/C snv
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1057519833
rs1057519833 		0.925 0.120 7 148809375 missense variant G/C snv
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs12670401
rs12670401 		0.925 0.080 7 148865843 intron variant T/C snv 0.41
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs12670401
rs12670401 		0.925 0.080 7 148865843 intron variant T/C snv 0.41
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2072407
rs2072407 		1.000 0.040 7 148811741 non coding transcript exon variant A/C;G;T snv 0.67
CUI: C4551961
Disease: Familial Isolated Hyperparathyroidism
Familial Isolated Hyperparathyroidism 		Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2302427
rs2302427 		1.000 0.080 7 148828812 missense variant C/G snv 7.8E-02 6.0E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs2302427
rs2302427 		1.000 0.080 7 148828812 missense variant C/G snv 7.8E-02 6.0E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs2302427
rs2302427 		1.000 0.080 7 148828812 missense variant C/G snv 7.8E-02 6.0E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs2302427
rs2302427 		1.000 0.080 7 148828812 missense variant C/G snv 7.8E-02 6.0E-02
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs267601394
rs267601394 		0.807 0.200 7 148811635 missense variant T/A;G snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs267601394
rs267601394 		0.807 0.200 7 148811635 missense variant T/A;G snv
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs267601394
rs267601394 		0.807 0.200 7 148811635 missense variant T/A;G snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs267601395
rs267601395 		0.925 0.160 7 148811636 missense variant A/G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs267601395
rs267601395 		0.925 0.160 7 148811636 missense variant A/G;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs267601395
rs267601395 		0.925 0.160 7 148811636 missense variant A/G;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs267601395
rs267601395 		0.925 0.160 7 148811636 missense variant A/G;T snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs3757441
rs3757441 		0.752 0.200 7 148827660 intron variant C/T snv 0.80
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2018 2018