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: rs1122608
rs1122608 		0.763 0.120 19 11052925 intron variant G/T snv 0.18
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.820 1.000 5 2011 2016
dbSNP: rs1122608
rs1122608 		0.763 0.120 19 11052925 intron variant G/T snv 0.18
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.810 0.500 2 2009 2014
dbSNP: rs281875226
rs281875226 		1.000 19 11019661 missense variant C/T snv
CUI: C3553249
Disease: COFFIN-SIRIS SYNDROME 4
COFFIN-SIRIS SYNDROME 4 		0.800 1.000 1 2012 2012
dbSNP: rs281875227
rs281875227 		1.000 19 11021761 missense variant C/T snv
CUI: C3553249
Disease: COFFIN-SIRIS SYNDROME 4
COFFIN-SIRIS SYNDROME 4 		0.800 1.000 1 2012 2012
dbSNP: rs281875228
rs281875228 		1.000 19 11021869 missense variant C/T snv
CUI: C3553249
Disease: COFFIN-SIRIS SYNDROME 4
COFFIN-SIRIS SYNDROME 4 		0.800 1.000 1 2012 2012
dbSNP: rs281875229
rs281875229 		1.000 19 11024389 missense variant T/C snv
CUI: C3553249
Disease: COFFIN-SIRIS SYNDROME 4
COFFIN-SIRIS SYNDROME 4 		0.800 1.000 1 2012 2012
dbSNP: rs281875230
rs281875230 		1.000 19 11030816 missense variant C/G snv
CUI: C3553249
Disease: COFFIN-SIRIS SYNDROME 4
COFFIN-SIRIS SYNDROME 4 		0.800 1.000 1 2012 2012
dbSNP: rs55791371
rs55791371 		0.925 0.080 19 11077477 intron variant A/C snv 0.11
CUI: C0523744
Disease: Lipids measurement
Lipids measurement 		0.800 1.000 1 2012 2012
dbSNP: rs1122608
rs1122608 		0.763 0.120 19 11052925 intron variant G/T snv 0.18
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.720 1.000 3 2014 2016
dbSNP: rs1122608
rs1122608 		0.763 0.120 19 11052925 intron variant G/T snv 0.18
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.710 1.000 2 2014 2014
dbSNP: rs281875226
rs281875226 		1.000 19 11019661 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 8 2010 2017
dbSNP: rs281875227
rs281875227 		1.000 19 11021761 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 8 2010 2017
dbSNP: rs112374545
rs112374545 		19 11078223 intron variant C/T snv 0.11
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 3 2015 2019
dbSNP: rs112374545
rs112374545 		19 11078223 intron variant C/T snv 0.11
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 3 2015 2019
dbSNP: rs1060502088
rs1060502088 		1.000 0.040 19 11039495 frameshift variant G/- del
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		Neoplasms 0.700 1.000 2 2014 2014
dbSNP: rs143020224
rs143020224 		19 11076648 intron variant C/G;T snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2018 2019
dbSNP: rs1475054297
rs1475054297 		1.000 0.040 19 11033519 splice donor variant T/A;C snv
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		Neoplasms 0.700 1.000 2 2014 2014
dbSNP: rs1555774786
rs1555774786 		1.000 0.040 19 11013113 splice donor variant G/A snv
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		Neoplasms 0.700 1.000 2 2014 2014
dbSNP: rs1555785056
rs1555785056 		1.000 0.040 19 11034202 splice donor variant T/C snv
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		Neoplasms 0.700 1.000 2 2014 2014
dbSNP: rs1568430280
rs1568430280 		1.000 0.040 19 10989315 splice acceptor variant A/C snv
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		Neoplasms 0.700 1.000 2 2014 2014
dbSNP: rs1568462513
rs1568462513 		1.000 0.040 19 11007900 splice acceptor variant A/G snv
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		Neoplasms 0.700 1.000 2 2014 2014
dbSNP: rs73015011
rs73015011 		19 11079088 missense variant T/C snv 0.13
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 2 2018 2019
dbSNP: rs73015011
rs73015011 		19 11079088 missense variant T/C snv 0.13
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2018 2019
dbSNP: rs10423733
rs10423733 		19 11075243 intron variant T/C snv 0.32
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1122608
rs1122608 		0.763 0.120 19 11052925 intron variant G/T snv 0.18
CUI: C1842247
Disease: CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1
CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2013 2013