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: 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: 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: 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: rs41277434
rs41277434 		0.851 0.160 7 148809304 splice region variant A/C;G snv 6.8E-02; 8.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs41277434
rs41277434 		0.851 0.160 7 148809304 splice region variant A/C;G snv 6.8E-02; 8.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs41277434
rs41277434 		0.851 0.160 7 148809304 splice region variant A/C;G snv 6.8E-02; 8.0E-06
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs41277434
rs41277434 		0.851 0.160 7 148809304 splice region variant A/C;G snv 6.8E-02; 8.0E-06
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2016 2016
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
dbSNP: rs41277434
rs41277434 		0.851 0.160 7 148809304 splice region variant A/C;G snv 6.8E-02; 8.0E-06
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2016 2016
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: rs775407864
rs775407864 		1.000 0.120 7 148846567 missense variant A/G snv 3.6E-05 7.8E-05
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 1.000 1 2015 2015
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: 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: 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: 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: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
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: 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: 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: 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: rs377467108
rs377467108 		0.882 0.120 7 148827254 missense variant C/A;T snv 6.4E-05
CUI: C0020608
Disease: Hypodontia
Hypodontia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs377467108
rs377467108 		0.882 0.120 7 148827254 missense variant C/A;T snv 6.4E-05
CUI: C4082304
Disease: Oligodontia
Oligodontia 		0.010 1.000 1 2014 2014
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