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: rs1554499814
rs1554499814 		1.000 7 148829806 missense variant C/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 5 1998 2013
dbSNP: rs1554499814
rs1554499814 		1.000 7 148829806 missense variant C/G snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 5 1998 2013
dbSNP: rs397515547
rs397515547 		1.000 0.120 7 148809376 missense variant C/T snv
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 1.000 5 2011 2017
dbSNP: rs397515548
rs397515548 		1.000 0.120 7 148807669 missense variant C/T snv
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 1.000 5 2011 2017
dbSNP: rs587783625
rs587783625 		1.000 0.120 7 148811696 missense variant C/T snv
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.800 1.000 5 2011 2017
dbSNP: rs587783626
rs587783626 		1.000 0.120 7 148809370 missense variant G/A snv
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.800 1.000 5 2011 2017
dbSNP: rs267601394
rs267601394 		0.807 0.200 7 148811635 missense variant T/A;G snv
CUI: C0024299
Disease: Lymphoma
Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.720 1.000 4 2012 2016
dbSNP: rs1057519833
rs1057519833 		0.925 0.120 7 148809375 missense variant G/C snv
CUI: C0024299
Disease: Lymphoma
Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.710 1.000 2 2012 2012
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: rs1057519894
rs1057519894 		0.925 0.160 7 148811650 missense variant T/A;G snv
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519894
rs1057519894 		0.925 0.160 7 148811650 missense variant T/A;G snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs10952780
rs10952780 		7 148857243 intron variant A/C snv 0.46
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs10952780
rs10952780 		7 148857243 intron variant A/C snv 0.46
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
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: rs267601394
rs267601394 		0.807 0.200 7 148811635 missense variant T/A;G snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
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