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: rs104894501
rs104894501
TPM1
0.851 0.040 15 63044030 stop gained G/A;C;T snv 4.0E-06
CUI: C2678476
Disease: Cardiomyopathy, Dilated, 1y
Cardiomyopathy, Dilated, 1y 		0.800 1.000 0 2001 2001