Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs60682848
rs60682848
0.846 0.143 1 156134838 stop gained C/T snp
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.720 0.500 1 1993 2013
dbSNP: rs60682848
rs60682848
0.846 0.143 1 156134838 stop gained C/T snp
Hereditary Motor and Sensory-Neuropathy Type II
0.700 6 1990 2017
dbSNP: rs60682848
rs60682848
0.846 0.143 1 156134838 stop gained C/T snp
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 6 2001 2013
dbSNP: rs60682848
rs60682848
0.846 0.143 1 156134838 stop gained C/T snp
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)
0.700 1 2015 2015