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
0.790 0.200 1 156134838 stop gained C/T snv 7.0E-06
Hereditary Motor and Sensory-Neuropathy Type II
0.700 1.000 5 1990 2014
dbSNP: rs60682848
rs60682848
0.790 0.200 1 156134838 stop gained C/T snv 7.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.710 1.000 5 2001 2020
dbSNP: rs60682848
rs60682848
0.790 0.200 1 156134838 stop gained C/T snv 7.0E-06
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.700 0
dbSNP: rs60682848
rs60682848
0.790 0.200 1 156134838 stop gained C/T snv 7.0E-06
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)
0.700 0