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: rs59270054
rs59270054
1.000 0.071 1 156115162 missense variant G/A,C snp
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.710 1.000 7 2005 2013
dbSNP: rs59270054
rs59270054
1.000 0.071 1 156115162 missense variant G/A,C snp
Hereditary Motor and Sensory-Neuropathy Type II
0.700 1 2017 2017