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: rs121434439
rs121434439 		1.000 0.120 1 231265356 missense variant G/A snv 1.2E-05
CUI: C1857242
Disease: Rhizomelic chondrodysplasia punctata, type 2
Rhizomelic chondrodysplasia punctata, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.800 1.000 3 1998 2012
dbSNP: rs121434440
rs121434440 		1.000 0.120 1 231265355 missense variant C/T snv 8.0E-06
CUI: C1857242
Disease: Rhizomelic chondrodysplasia punctata, type 2
Rhizomelic chondrodysplasia punctata, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.800 1.000 3 1998 2012
dbSNP: rs11558492
rs11558492 		0.827 0.200 1 231272345 missense variant A/G;T snv 0.16
CUI: C1857242
Disease: Rhizomelic chondrodysplasia punctata, type 2
Rhizomelic chondrodysplasia punctata, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 3 1998 2012
dbSNP: rs11558492
rs11558492 		0.827 0.200 1 231272345 missense variant A/G;T snv 0.16
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.020 0.500 2 2017 2017
dbSNP: rs11558492
rs11558492 		0.827 0.200 1 231272345 missense variant A/G;T snv 0.16
CUI: C0282193
Disease: Iron Overload
Iron Overload 		Nutritional and Metabolic Diseases 0.020 1.000 2 2015 2017
dbSNP: rs11558492
rs11558492 		0.827 0.200 1 231272345 missense variant A/G;T snv 0.16
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.020 0.500 2 2017 2017
dbSNP: rs11558492
rs11558492 		0.827 0.200 1 231272345 missense variant A/G;T snv 0.16
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 < 0.001 1 2017 2017