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: rs2391388
rs2391388 		1 95020269 intron variant A/C snv 0.49
CUI: C1281901
Disease: Fatty acid measurement
Fatty acid measurement 		0.700 1.000 1 2013 2013
dbSNP: rs2391388
rs2391388 		1 95020269 intron variant A/C snv 0.49
CUI: C0202177
Disease: Phospholipid measurement
Phospholipid measurement 		0.700 1.000 1 2013 2013
dbSNP: rs6675668
rs6675668 		1 95050081 intron variant T/G snv 0.43
CUI: C0202177
Disease: Phospholipid measurement
Phospholipid measurement 		0.700 1.000 1 2013 2013
dbSNP: rs6675668
rs6675668 		1 95050081 intron variant T/G snv 0.43
CUI: C1281901
Disease: Fatty acid measurement
Fatty acid measurement 		0.700 1.000 1 2013 2013
dbSNP: rs7539517
rs7539517 		0.925 0.040 1 94975315 3 prime UTR variant A/C;G;T snv
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs7539517
rs7539517 		0.925 0.040 1 94975315 3 prime UTR variant A/C;G;T snv
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs769114543
rs769114543 		1.000 1 95064934 missense variant C/T snv 1.6E-04 1.2E-04
CUI: C4015596
Disease: MYASTHENIC SYNDROME, CONGENITAL, 15
MYASTHENIC SYNDROME, CONGENITAL, 15 		0.700 1.000 1 2017 2017
dbSNP: rs367570129
rs367570129 		1.000 1 95027239 stop gained G/A snv 4.0E-05 4.2E-05
CUI: C4015596
Disease: MYASTHENIC SYNDROME, CONGENITAL, 15
MYASTHENIC SYNDROME, CONGENITAL, 15 		0.700 0
dbSNP: rs730882050
rs730882050 		1.000 1 95064960 missense variant G/A snv
CUI: C4015596
Disease: MYASTHENIC SYNDROME, CONGENITAL, 15
MYASTHENIC SYNDROME, CONGENITAL, 15 		0.700 0