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: rs267607485
rs267607485
DES
0.925 0.160 2 219425720 missense variant A/C snv
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.710 1.000 22 1998 2017
dbSNP: rs267607485
rs267607485
DES
0.925 0.160 2 219425720 missense variant A/C snv
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.700 0