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: 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: 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: 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: 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: rs887569
rs887569 		0.882 0.120 7 148808210 intron variant C/T snv 0.73
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: rs887569
rs887569 		0.882 0.120 7 148808210 intron variant C/T snv 0.73
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: rs887569
rs887569 		0.882 0.120 7 148808210 intron variant C/T snv 0.73
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: 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: 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: 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: 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: 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: 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: 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: 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