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: 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: 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: rs740949
rs740949 		1.000 0.040 7 148808972 intron variant A/G;T snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs78589034
rs78589034 		1.000 0.040 7 148811726 splice region variant G/A snv 1.9E-03 2.0E-03
CUI: C4551961
Disease: Familial Isolated Hyperparathyroidism
Familial Isolated Hyperparathyroidism 		Endocrine System Diseases 0.010 1.000 1 2016 2016
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: 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: 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: rs734004
rs734004 		0.925 0.080 7 148808368 intron variant G/C snv 0.66
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs734004
rs734004 		0.925 0.080 7 148808368 intron variant G/C snv 0.66
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs734005
rs734005 		0.925 0.080 7 148808772 intron variant G/A;C snv
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs734005
rs734005 		0.925 0.080 7 148808772 intron variant G/A;C snv
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs754403133
rs754403133 		0.925 0.080 7 148846598 missense variant T/C snv 2.3E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs754403133
rs754403133 		0.925 0.080 7 148846598 missense variant T/C snv 2.3E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1554481435
rs1554481435 		1.000 0.080 7 148809351 missense variant C/T snv
CUI: C0023480
Disease: Leukemia, Myelomonocytic, Chronic
Leukemia, Myelomonocytic, Chronic 		Neoplasms; Hemic and Lymphatic Diseases 0.700 0
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