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: rs267607554
rs267607554
1.000 0.080 1 156135925 stop gained C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 6 2006 2014
dbSNP: rs267607554
rs267607554
1.000 0.080 1 156135925 stop gained C/T snv
Hereditary Motor and Sensory-Neuropathy Type II
0.700 1.000 2 2008 2016