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: rs72646846
rs72646846
0.925 0.160 2 178589849 stop gained G/A snv 7.6E-05 6.3E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 4 2012 2019
dbSNP: rs72646846
rs72646846
0.925 0.160 2 178589849 stop gained G/A snv 7.6E-05 6.3E-05
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.700 1.000 3 2012 2015
dbSNP: rs72646846
rs72646846
0.925 0.160 2 178589849 stop gained G/A snv 7.6E-05 6.3E-05
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g
0.700 1.000 3 2012 2015
dbSNP: rs72646846
rs72646846
0.925 0.160 2 178589849 stop gained G/A snv 7.6E-05 6.3E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 0