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: rs121912997
rs121912997
DSP
0.923 0.143 6 7579989 stop gained C/G,T snp
Cardiomyopathy dilated with Woolly hair and keratoderma
0.700 1 2006 2006
dbSNP: rs121912997
rs121912997
DSP
0.923 0.143 6 7579989 stop gained C/G,T snp
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.700 0
dbSNP: rs121912997
rs121912997
DSP
0.923 0.143 6 7579989 stop gained C/G,T snp
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 0