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: rs201948500
rs201948500 		0.882 0.120 2 43794485 missense variant C/G snv 2.4E-05 4.9E-05
CUI: C4310724
Disease: SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY 		0.800 1.000 2 2015 2015
dbSNP: rs886037860
rs886037860 		1.000 2 43800845 missense variant C/T snv 1.7E-05 3.5E-05
CUI: C4310724
Disease: SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY 		0.800 1.000 2 2015 2015
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: 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: 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: 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: 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: rs17031687
rs17031687 		2 43828248 non coding transcript exon variant C/T snv 7.9E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
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: rs3765000
rs3765000 		2 43787162 intron variant A/G snv 0.12 0.13
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs3792015
rs3792015 		1.000 0.080 2 43798489 intron variant T/C snv 2.2E-02
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2009 2009
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: 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: rs1553359373
rs1553359373 		1.000 2 43776896 frameshift variant -/A ins
CUI: C4310724
Disease: SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY 		0.700 0
dbSNP: rs200859699
rs200859699 		1.000 2 43774140 start lost T/C snv 5.2E-05 1.4E-05
CUI: C4310724
Disease: SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY 		0.700 0
dbSNP: rs201948500
rs201948500 		0.882 0.120 2 43794485 missense variant C/G snv 2.4E-05 4.9E-05
CUI: C0426817
Disease: Short ribs
Short ribs 		0.700 0
dbSNP: rs201948500
rs201948500 		0.882 0.120 2 43794485 missense variant C/G snv 2.4E-05 4.9E-05
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: rs201948500
rs201948500 		0.882 0.120 2 43794485 missense variant C/G snv 2.4E-05 4.9E-05
CUI: C0152427
Disease: Polydactyly
Polydactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs374356079
rs374356079 		0.882 0.120 2 43805247 splice donor variant G/A snv 2.0E-05 7.0E-06
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: rs374356079
rs374356079 		0.882 0.120 2 43805247 splice donor variant G/A snv 2.0E-05 7.0E-06
CUI: C0426817
Disease: Short ribs
Short ribs 		0.700 0
dbSNP: rs374356079
rs374356079 		0.882 0.120 2 43805247 splice donor variant G/A snv 2.0E-05 7.0E-06
CUI: C4310724
Disease: SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY 		0.700 0
dbSNP: rs374356079
rs374356079 		0.882 0.120 2 43805247 splice donor variant G/A snv 2.0E-05 7.0E-06
CUI: C0152427
Disease: Polydactyly
Polydactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs745930390
rs745930390 		1.000 2 43796760 stop gained C/G;T snv 4.0E-05
CUI: C4310724
Disease: SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY 		0.700 0