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: rs397517689
rs397517689
0.882 0.160 2 178574530 stop gained G/A snv 4.0E-06
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.700 1.000 4 2013 2017
dbSNP: rs397517689
rs397517689
0.882 0.160 2 178574530 stop gained G/A snv 4.0E-06
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g
0.700 1.000 4 2013 2017
dbSNP: rs397517689
rs397517689
0.882 0.160 2 178574530 stop gained G/A snv 4.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 3 2012 2016
dbSNP: rs397517689
rs397517689
0.882 0.160 2 178574530 stop gained G/A snv 4.0E-06
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy
0.700 0
dbSNP: rs397517689
rs397517689
0.882 0.160 2 178574530 stop gained G/A snv 4.0E-06
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 0