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: rs137852810
rs137852810 		1.000 17 7454341 missense variant G/A snv
CUI: C4225374
Disease: MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL 		0.800 1.000 5 1996 2016
dbSNP: rs137852811
rs137852811 		1.000 17 7454329 missense variant C/A snv
CUI: C4225374
Disease: MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL 		0.800 1.000 3 1996 2016
dbSNP: rs201033437
rs201033437 		1.000 17 7447556 stop gained C/G;T snv 4.8E-05; 8.0E-06
CUI: C4225374
Disease: MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL 		0.700 0
dbSNP: rs766823872
rs766823872 		1.000 17 7446837 stop gained G/A snv 3.2E-05 2.1E-05
CUI: C4225374
Disease: MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL 		0.700 0
dbSNP: rs2302762
rs2302762 		1.000 0.080 17 7455542 non coding transcript exon variant T/C snv 0.61
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2006 2006
dbSNP: rs2302763
rs2302763 		1.000 0.080 17 7455958 intron variant T/C;G snv 0.18
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2006 2006
dbSNP: rs2302765
rs2302765 		1.000 0.080 17 7447656 splice region variant T/C snv 0.18 0.17
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2006 2006