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
0.801 0.179 2 178589849 stop gained G/A snp 7.6E-05 3.2E-05
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.700 4 2012 2017
dbSNP: rs72646846
rs72646846
0.801 0.179 2 178589849 stop gained G/A snp 7.6E-05 3.2E-05
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g
0.700 4 2012 2017
dbSNP: rs72646846
rs72646846
0.801 0.179 2 178589849 stop gained G/A snp 7.6E-05 3.2E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 3 2012 2015
dbSNP: rs72646846
rs72646846
0.801 0.179 2 178589849 stop gained G/A snp 7.6E-05 3.2E-05
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9
0.700 0
dbSNP: rs72646846
rs72646846
0.801 0.179 2 178589849 stop gained G/A snp 7.6E-05 3.2E-05
Myopathy, Early-Onset, with Fatal Cardiomyopathy
0.700 0
dbSNP: rs72646846
rs72646846
0.801 0.179 2 178589849 stop gained G/A snp 7.6E-05 3.2E-05
CUI: C1838244
Disease: TIBIAL MUSCULAR DYSTROPHY, TARDIVE
TIBIAL MUSCULAR DYSTROPHY, TARDIVE
0.700 0
dbSNP: rs72646846
rs72646846
0.801 0.179 2 178589849 stop gained G/A snp 7.6E-05 3.2E-05
Hereditary Myopathy with Early Respiratory Failure
0.700 0