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: rs879255655
rs879255655
0.882 0.120 2 43809711 stop gained G/T snv
CUI: C0426817
Disease: Short ribs
Short ribs
0.700 0
dbSNP: rs879255655
rs879255655
0.882 0.120 2 43809711 stop gained G/T snv
CUI: C4551856
Disease: Asphyxiating Thoracic Dystrophy 1
Asphyxiating Thoracic Dystrophy 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs879255655
rs879255655
0.882 0.120 2 43809711 stop gained G/T snv
CUI: C0152427
Disease: Polydactyly
Polydactyly
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs879255655
rs879255655
0.882 0.120 2 43809711 stop gained G/T snv
SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
0.700 0
dbSNP: rs6720173
rs6720173
0.827 0.080 2 43813262 missense variant G/C snv 0.21 0.21
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis
Digestive System Diseases 0.030 1.000 3 2007 2010
dbSNP: rs6720173
rs6720173
0.827 0.080 2 43813262 missense variant G/C snv 0.21 0.21
CUI: C0947622
Disease: Cholecystolithiasis
Cholecystolithiasis
Digestive System Diseases 0.020 1.000 2 2007 2008
dbSNP: rs6720173
rs6720173
0.827 0.080 2 43813262 missense variant G/C snv 0.21 0.21
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs6720173
rs6720173
0.827 0.080 2 43813262 missense variant G/C snv 0.21 0.21
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
Nutritional and Metabolic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs6720173
rs6720173
0.827 0.080 2 43813262 missense variant G/C snv 0.21 0.21
CUI: C3714619
Disease: Insulin resistance syndrome
Insulin resistance syndrome
Nutritional and Metabolic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs138958276
rs138958276
2 43815648 intron variant G/A snv 2.9E-02
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019
dbSNP: rs4148191
rs4148191
2 43815765 intron variant C/A snv 0.13
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement
0.700 1.000 1 2016 2016
dbSNP: rs4148191
rs4148191
2 43815765 intron variant C/A snv 0.13
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.700 1.000 1 2016 2016
dbSNP: rs10205816
rs10205816
2 43817116 intron variant A/G snv 0.39
CUI: C0428578
Disease: Iron level result
Iron level result
0.700 1.000 1 2011 2011
dbSNP: rs10205816
rs10205816
2 43817116 intron variant A/G snv 0.39
CUI: C0337439
Disease: Iron measurement
Iron measurement
0.700 1.000 1 2011 2011
dbSNP: rs199689137
rs199689137
1.000 0.120 2 43822924 stop gained G/A;C;T snv 1.8E-04; 8.0E-06; 4.0E-06
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 13 2007 2018
dbSNP: rs575266356
rs575266356
1.000 0.120 2 43823926 missense variant G/A;C snv 1.3E-04; 1.6E-05
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.710 1.000 4 2001 2004
dbSNP: rs119479067
rs119479067
1.000 0.120 2 43823981 missense variant C/G;T snv 2.4E-05
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs119480069
rs119480069
1.000 0.120 2 43824071 missense variant C/T snv 1.5E-04 8.4E-05
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.710 1.000 1 2010 2010
dbSNP: rs1014715108
rs1014715108
1.000 0.120 2 43824350 stop gained G/A;T snv 4.0E-06; 4.0E-06
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs869025350
rs869025350
1.000 0.120 2 43824359 frameshift variant T/- delins
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs17031687
rs17031687
2 43828248 non coding transcript exon variant C/T snv 7.9E-02
Low density lipoprotein cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs17031687
rs17031687
2 43828248 non coding transcript exon variant C/T snv 7.9E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs758551848
rs758551848
1.000 0.120 2 43831834 stop gained C/A;G snv
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs6756629
rs6756629
0.925 0.080 2 43837951 missense variant G/A;T snv 6.7E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement
0.700 1.000 1 2009 2009
dbSNP: rs6756629
rs6756629
0.925 0.080 2 43837951 missense variant G/A;T snv 6.7E-02
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis
Digestive System Diseases 0.010 1.000 1 2013 2013