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: rs1060503430
rs1060503430 		1.000 0.120 7 148810372 missense variant C/A snv
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1131692184
rs1131692184 		1.000 0.120 7 148807689 missense variant G/C;T snv
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
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: rs1563181659
rs1563181659 		1.000 0.120 7 148807681 inframe insertion -/TTC delins
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs193921147
rs193921147 		1.000 0.120 7 148809340 missense variant G/A snv
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs193921148
rs193921148 		1.000 0.120 7 148829818 missense variant G/A snv
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
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: rs3757441
rs3757441 		0.752 0.200 7 148827660 intron variant C/T snv 0.80
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2010 2010
dbSNP: rs3757441
rs3757441 		0.752 0.200 7 148827660 intron variant C/T snv 0.80
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2010 2010
dbSNP: rs3757441
rs3757441 		0.752 0.200 7 148827660 intron variant C/T snv 0.80
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2010 2010
dbSNP: rs6950683
rs6950683 		0.851 0.120 7 148884496 upstream gene variant T/C;G snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2010 2010
dbSNP: rs6950683
rs6950683 		0.851 0.120 7 148884496 upstream gene variant T/C;G snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2010 2010
dbSNP: rs6950683
rs6950683 		0.851 0.120 7 148884496 upstream gene variant T/C;G snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2010 2010
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: 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: rs267601395
rs267601395 		0.925 0.160 7 148811636 missense variant A/G;T snv
CUI: C0024299
Disease: Lymphoma
Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2012 2012
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: rs377467108
rs377467108 		0.882 0.120 7 148827254 missense variant C/A;T snv 6.4E-05
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
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: rs3757441
rs3757441 		0.752 0.200 7 148827660 intron variant C/T snv 0.80
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs41277434
rs41277434 		0.851 0.160 7 148809304 splice region variant A/C;G snv 6.8E-02; 8.0E-06
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013