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: rs121918710
rs121918710 		1.000 0.120 9 99142683 missense variant T/G snv
CUI: C4551955
Disease: Loeys-Dietz Syndrome, Type 1a
Loeys-Dietz Syndrome, Type 1a 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 12 2005 2017
dbSNP: rs121918711
rs121918711 		1.000 0.120 9 99146553 missense variant A/G snv
CUI: C4551955
Disease: Loeys-Dietz Syndrome, Type 1a
Loeys-Dietz Syndrome, Type 1a 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 12 2005 2017
dbSNP: rs121918712
rs121918712 		1.000 0.120 9 99137883 missense variant C/T snv
CUI: C4551955
Disease: Loeys-Dietz Syndrome, Type 1a
Loeys-Dietz Syndrome, Type 1a 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 12 2005 2017
dbSNP: rs113605875
rs113605875 		0.882 0.120 9 99149253 missense variant G/A;C;T snv
CUI: C4551955
Disease: Loeys-Dietz Syndrome, Type 1a
Loeys-Dietz Syndrome, Type 1a 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases 0.800 1.000 7 2011 2017
dbSNP: rs113605875
rs113605875 		0.882 0.120 9 99149253 missense variant G/A;C;T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 7 2005 2012
dbSNP: rs113605875
rs113605875 		0.882 0.120 9 99149253 missense variant G/A;C;T snv
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 1.000 6 2006 2012
dbSNP: rs863223829
rs863223829 		1.000 0.120 9 99137962 inframe deletion AAG/- delins
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases 0.700 1.000 4 2008 2015
dbSNP: rs10512263
rs10512263 		0.851 0.120 9 99123789 intron variant T/C snv 6.5E-02
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2014 2018
dbSNP: rs10512263
rs10512263 		0.851 0.120 9 99123789 intron variant T/C snv 6.5E-02
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2014 2018
dbSNP: rs11466445
rs11466445 		0.851 0.160 9 99105256 inframe insertion GCGGCGGCGGCGGCG/-;GCG;GCGGCG;GCGGCGGCG;GCGGCGGCGGCG;GCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCGGCGGCG delins
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2010 2014
dbSNP: rs334353
rs334353 		1.000 0.040 9 99146083 intron variant T/G snv 0.25
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.810 1.000 2 2013 2019
dbSNP: rs868
rs868 		0.851 0.160 9 99149374 3 prime UTR variant A/G snv 0.17
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.020 0.500 2 2014 2017
dbSNP: rs10512263
rs10512263 		0.851 0.120 9 99123789 intron variant T/C snv 6.5E-02
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2016 2016
dbSNP: rs10512263
rs10512263 		0.851 0.120 9 99123789 intron variant T/C snv 6.5E-02
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2016 2016
dbSNP: rs10733710
rs10733710 		0.925 0.080 9 99145142 intron variant G/A snv 0.21
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2016 2016
dbSNP: rs10733710
rs10733710 		0.925 0.080 9 99145142 intron variant G/A snv 0.21
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2016 2016
dbSNP: rs10988706
rs10988706 		1.000 0.080 9 99108020 intron variant T/C snv 0.22
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs11466445
rs11466445 		0.851 0.160 9 99105256 inframe insertion GCGGCGGCGGCGGCG/-;GCG;GCGGCG;GCGGCGGCG;GCGGCGGCGGCG;GCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCGGCGGCG delins
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs11466445
rs11466445 		0.851 0.160 9 99105256 inframe insertion GCGGCGGCGGCGGCG/-;GCG;GCGGCG;GCGGCGGCG;GCGGCGGCGGCG;GCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCGGCGGCG delins
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs11466445
rs11466445 		0.851 0.160 9 99105256 inframe insertion GCGGCGGCGGCGGCG/-;GCG;GCGGCG;GCGGCGGCG;GCGGCGGCGGCG;GCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCGGCGGCG delins
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 < 0.001 1 2009 2009
dbSNP: rs11466445
rs11466445 		0.851 0.160 9 99105256 inframe insertion GCGGCGGCGGCGGCG/-;GCG;GCGGCG;GCGGCGGCG;GCGGCGGCGGCG;GCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCGGCGGCG delins
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs11568746
rs11568746 		9 99105926 intron variant C/G snv 2.1E-05
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11568746
rs11568746 		9 99105926 intron variant C/G snv 2.1E-05
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11568746
rs11568746 		9 99105926 intron variant C/G snv 2.1E-05
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11568746
rs11568746 		9 99105926 intron variant C/G snv 2.1E-05
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012