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: rs770038577
rs770038577
0.925 0.160 2 178561042 stop gained G/A;T snv 4.0E-06
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g
0.700 1.000 1 2015 2015
dbSNP: rs770038577
rs770038577
0.925 0.160 2 178561042 stop gained G/A;T snv 4.0E-06
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.700 1.000 1 2015 2015
dbSNP: rs770038577
rs770038577
0.925 0.160 2 178561042 stop gained G/A;T snv 4.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 0