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: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs11672232
rs11672232 		0.851 0.040 19 10995924 missense variant C/T snv 0.31 0.32
CUI: C0279070
Disease: Adult Oligodendroglioma
Adult Oligodendroglioma 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs12232780
rs12232780 		0.807 0.080 19 11021404 non coding transcript exon variant G/A snv 0.23
CUI: C0279070
Disease: Adult Oligodendroglioma
Adult Oligodendroglioma 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs189596789
rs189596789 		19 11078944 intron variant G/A snv 1.9E-03
CUI: C1629609
Disease: Age at menopause
Age at menopause 		0.700 1.000 1 2013 2013
dbSNP: rs143020224
rs143020224 		19 11076648 intron variant C/G;T snv
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs1122608
rs1122608 		0.763 0.120 19 11052925 intron variant G/T snv 0.18
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1122608
rs1122608 		0.763 0.120 19 11052925 intron variant G/T snv 0.18
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1568486679
rs1568486679 		0.882 0.080 19 11021755 missense variant G/A snv
CUI: C1389018
Disease: Atrioventricular Septal Defect
Atrioventricular Septal Defect 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs78157521
rs78157521 		19 11038272 intron variant A/G snv 4.7E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs200495339
rs200495339 		1.000 0.080 19 11078623 intron variant G/- delins 0.12
CUI: C0577631
Disease: Carotid Atherosclerosis
Carotid Atherosclerosis 		Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2018 2018
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: rs8103309
rs8103309 		1.000 0.080 19 11064259 intron variant T/C snv 0.40
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs11672232
rs11672232 		0.851 0.040 19 10995924 missense variant C/T snv 0.31 0.32
CUI: C0280475
Disease: Childhood Oligodendroglioma
Childhood Oligodendroglioma 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs12232780
rs12232780 		0.807 0.080 19 11021404 non coding transcript exon variant G/A snv 0.23
CUI: C0280475
Disease: Childhood Oligodendroglioma
Childhood Oligodendroglioma 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs1568486679
rs1568486679 		0.882 0.080 19 11021755 missense variant G/A snv
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		Pathological Conditions, Signs and Symptoms 0.700 0
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: rs1060499936
rs1060499936 		1.000 19 11021959 missense variant G/A snv
CUI: C3553249
Disease: COFFIN-SIRIS SYNDROME 4
COFFIN-SIRIS SYNDROME 4 		0.700 0
dbSNP: rs1568456200
rs1568456200 		0.925 0.040 19 11003338 splice donor variant TGAAGTAGCTCCGAGGTCTGATAGTGAAGAAAGTGGCTCAGAAGAAGAGGAAGAGGTA/- delins
CUI: C3553249
Disease: COFFIN-SIRIS SYNDROME 4
COFFIN-SIRIS SYNDROME 4 		0.700 0
dbSNP: rs1568486679
rs1568486679 		0.882 0.080 19 11021755 missense variant G/A snv
CUI: C3553249
Disease: COFFIN-SIRIS SYNDROME 4
COFFIN-SIRIS SYNDROME 4 		0.700 0
dbSNP: rs587779750
rs587779750 		1.000 19 11034171 missense variant C/T snv 7.0E-06
CUI: C3553249
Disease: COFFIN-SIRIS SYNDROME 4
COFFIN-SIRIS SYNDROME 4 		0.700 0
dbSNP: rs770014321
rs770014321 		1.000 19 11025467 missense variant C/A;T snv 4.0E-06
CUI: C3553249
Disease: COFFIN-SIRIS SYNDROME 4
COFFIN-SIRIS SYNDROME 4 		0.700 0