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: rs117859753
rs117859753 		1.000 0.040 3 99913731 intron variant G/A snv 3.3E-03
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1688766
rs1688766 		0.925 0.120 3 99929006 intron variant G/A snv 0.18
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1688766
rs1688766 		0.925 0.120 3 99929006 intron variant G/A snv 0.18
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs68092024
rs68092024 		0.925 0.120 3 99972678 intron variant C/T snv 0.68
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs68092024
rs68092024 		0.925 0.120 3 99972678 intron variant C/T snv 0.68
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs7635633
rs7635633 		3 99837952 intron variant T/A snv 4.7E-02
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs813218
rs813218 		1.000 0.080 3 99873752 intron variant C/T snv 0.51
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs9811920
rs9811920 		1.000 0.040 3 100125449 intron variant G/A snv 0.43
CUI: C0429494
Disease: Ocular axial length
Ocular axial length 		0.700 1.000 1 2013 2013
dbSNP: rs9833888
rs9833888 		1.000 0.080 3 100004736 intron variant G/T snv 0.18
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs9837602
rs9837602 		1.000 0.080 3 100105841 intron variant G/A snv 0.18
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1194685298
rs1194685298 		1.000 0.080 3 99850556 missense variant C/G snv 4.0E-06
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs144351944
rs144351944 		1.000 0.040 3 100114095 5 prime UTR variant T/G snv 8.7E-04
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2018 2018
dbSNP: rs9811920
rs9811920 		1.000 0.040 3 100125449 intron variant G/A snv 0.43
CUI: C0271183
Disease: Severe myopia
Severe myopia 		Eye Diseases 0.010 < 0.001 1 2016 2016