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: rs140403642
rs140403642 		4 183682810 stop gained C/T snv 8.0E-06 4.2E-05
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2015 2017
dbSNP: rs10018951
rs10018951 		1.000 0.080 4 183688220 intron variant C/T snv 0.18
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs397509417
rs397509417 		1.000 4 183701783 missense variant G/A snv 7.2E-05 1.4E-05
CUI: C4517996
Disease: Autosomal recessive limb girdle muscular dystrophy type 2S
Autosomal recessive limb girdle muscular dystrophy type 2S 		0.700 1.000 1 2013 2013
dbSNP: rs397509418
rs397509418 		4 183684059 splice region variant G/A snv 5.6E-05 4.2E-05
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs397509417
rs397509417 		1.000 4 183701783 missense variant G/A snv 7.2E-05 1.4E-05
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2013 2013