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: rs201992075
rs201992075 		1.000 12 6581131 missense variant C/G;T snv 4.0E-06; 3.6E-05 4.9E-05
CUI: C4310688
Disease: SIFRIM-HITZ-WEISS SYNDROME
SIFRIM-HITZ-WEISS SYNDROME 		0.800 0
dbSNP: rs886039915
rs886039915 		0.925 12 6591713 missense variant C/T snv
CUI: C4310688
Disease: SIFRIM-HITZ-WEISS SYNDROME
SIFRIM-HITZ-WEISS SYNDROME 		0.800 0
dbSNP: rs886039916
rs886039916 		1.000 12 6593191 missense variant G/T snv
CUI: C4310688
Disease: SIFRIM-HITZ-WEISS SYNDROME
SIFRIM-HITZ-WEISS SYNDROME 		0.800 0
dbSNP: rs886039917
rs886039917 		1.000 12 6588383 missense variant C/T snv
CUI: C4310688
Disease: SIFRIM-HITZ-WEISS SYNDROME
SIFRIM-HITZ-WEISS SYNDROME 		0.800 0
dbSNP: rs886039918
rs886039918 		1.000 12 6587897 missense variant C/A snv
CUI: C4310688
Disease: SIFRIM-HITZ-WEISS SYNDROME
SIFRIM-HITZ-WEISS SYNDROME 		0.800 0
dbSNP: rs886039919
rs886039919 		1.000 12 6588320 missense variant C/A snv
CUI: C4310688
Disease: SIFRIM-HITZ-WEISS SYNDROME
SIFRIM-HITZ-WEISS SYNDROME 		0.800 0
dbSNP: rs1377989582
rs1377989582 		1.000 12 6587756 missense variant T/A;G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 9 2010 2017
dbSNP: rs1377989582
rs1377989582 		1.000 12 6587756 missense variant T/A;G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 9 2010 2017
dbSNP: rs886039915
rs886039915 		0.925 12 6591713 missense variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 9 2010 2017
dbSNP: rs886039915
rs886039915 		0.925 12 6591713 missense variant C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 9 2010 2017
dbSNP: rs1639122
rs1639122 		12 6601981 missense variant C/A;G snv 0.40
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs7308584
rs7308584 		12 6597578 intron variant G/A snv 0.28
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs7308584
rs7308584 		12 6597578 intron variant G/A snv 0.28
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: rs1060499583
rs1060499583 		1.000 12 6587518 missense variant A/C snv
CUI: C4310688
Disease: SIFRIM-HITZ-WEISS SYNDROME
SIFRIM-HITZ-WEISS SYNDROME 		0.700 0
dbSNP: rs1639122
rs1639122 		12 6601981 missense variant C/A;G snv 0.40
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs1639122
rs1639122 		12 6601981 missense variant C/A;G snv 0.40
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs74790047
rs74790047 		0.851 0.120 12 6601978 missense variant A/C;G snv 2.0E-05; 1.2E-04; 5.2E-03 1.7E-03
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs74790047
rs74790047 		0.851 0.120 12 6601978 missense variant A/C;G snv 2.0E-05; 1.2E-04; 5.2E-03 1.7E-03
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs74790047
rs74790047 		0.851 0.120 12 6601978 missense variant A/C;G snv 2.0E-05; 1.2E-04; 5.2E-03 1.7E-03
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs74790047
rs74790047 		0.851 0.120 12 6601978 missense variant A/C;G snv 2.0E-05; 1.2E-04; 5.2E-03 1.7E-03
CUI: C0024299
Disease: Lymphoma
Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs74790047
rs74790047 		0.851 0.120 12 6601978 missense variant A/C;G snv 2.0E-05; 1.2E-04; 5.2E-03 1.7E-03
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs74790047
rs74790047 		0.851 0.120 12 6601978 missense variant A/C;G snv 2.0E-05; 1.2E-04; 5.2E-03 1.7E-03
CUI: C0007113
Disease: Rectal Carcinoma
Rectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs74790047
rs74790047 		0.851 0.120 12 6601978 missense variant A/C;G snv 2.0E-05; 1.2E-04; 5.2E-03 1.7E-03
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2015 2015