Source: ALL

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: rs137853305
rs137853305
TPM2
0.851 0.120 9 35685529 missense variant G/A snv
CUI: C1456418
Disease: Absence of muscle
Absence of muscle 		0.010 1.000 1 2007 2007
dbSNP: rs80338802
rs80338802
CAPN3
0.925 0.120 15 42410926 missense variant G/A;C snv 3.2E-05; 4.0E-06
CUI: C1456418
Disease: Absence of muscle
Absence of muscle 		0.010 1.000 1 2003 2003