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: rs121918259
rs121918259 		1.000 0.160 11 822494 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C1853136
Disease: Neutral Lipid Storage Disease with Myopathy
Neutral Lipid Storage Disease with Myopathy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 5 2007 2013
dbSNP: rs1554975332
rs1554975332 		1.000 11 819906 splice donor variant G/C snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 6 2008 2016
dbSNP: rs796065308
rs796065308 		0.925 0.160 11 822522 frameshift variant -/C delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 6 2008 2016
dbSNP: rs796065303
rs796065303 		1.000 0.160 11 823740 frameshift variant C/- delins
CUI: C1853136
Disease: Neutral Lipid Storage Disease with Myopathy
Neutral Lipid Storage Disease with Myopathy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 3 2007 2013
dbSNP: rs869320738
rs869320738 		1.000 0.160 11 823588 splice donor variant G/T snv 4.1E-06
CUI: C1853136
Disease: Neutral Lipid Storage Disease with Myopathy
Neutral Lipid Storage Disease with Myopathy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 3 2007 2017
dbSNP: rs140201358
rs140201358 		11 823586 missense variant C/G;T snv 8.9E-03; 8.3E-06
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 2 2019 2019
dbSNP: rs10902223
rs10902223 		11 817786 upstream gene variant C/T snv 0.46
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2018 2018
dbSNP: rs1138714
rs1138714 		11 825110 3 prime UTR variant A/G snv 0.47
CUI: C0424621
Disease: Body Fat Distribution
Body Fat Distribution 		0.700 1.000 1 2019 2019
dbSNP: rs121918260
rs121918260 		1.000 0.160 11 823801 stop gained C/T snv
CUI: C1853136
Disease: Neutral Lipid Storage Disease with Myopathy
Neutral Lipid Storage Disease with Myopathy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1565089992
rs1565089992 		1.000 0.160 11 824120 frameshift variant T/- delins
CUI: C1853136
Disease: Neutral Lipid Storage Disease with Myopathy
Neutral Lipid Storage Disease with Myopathy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs397514625
rs397514625 		1.000 0.160 11 823579 missense variant A/C;T snv 4.1E-06
CUI: C1853136
Disease: Neutral Lipid Storage Disease with Myopathy
Neutral Lipid Storage Disease with Myopathy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs777539013
rs777539013 		1.000 0.160 11 823589 splice donor variant T/C snv 4.1E-06
CUI: C1853136
Disease: Neutral Lipid Storage Disease with Myopathy
Neutral Lipid Storage Disease with Myopathy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs796065304
rs796065304 		1.000 0.160 11 823781 frameshift variant C/- delins
CUI: C1853136
Disease: Neutral Lipid Storage Disease with Myopathy
Neutral Lipid Storage Disease with Myopathy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs796065307
rs796065307 		1.000 0.160 11 822002 frameshift variant C/- delins
CUI: C1853136
Disease: Neutral Lipid Storage Disease with Myopathy
Neutral Lipid Storage Disease with Myopathy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs796065308
rs796065308 		0.925 0.160 11 822522 frameshift variant -/C delins
CUI: C1853136
Disease: Neutral Lipid Storage Disease with Myopathy
Neutral Lipid Storage Disease with Myopathy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs796065309
rs796065309 		1.000 0.160 11 822452 frameshift variant C/- delins
CUI: C1853136
Disease: Neutral Lipid Storage Disease with Myopathy
Neutral Lipid Storage Disease with Myopathy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs796065310
rs796065310 		1.000 0.160 11 822000 frameshift variant -/CTCC delins 4.0E-06 7.0E-06
CUI: C1853136
Disease: Neutral Lipid Storage Disease with Myopathy
Neutral Lipid Storage Disease with Myopathy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0