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: rs1048379601
rs1048379601
DMD
X 31773986 missense variant T/C snv 1.9E-05
CUI: C0026821
Disease: Muscle Cramp
Muscle Cramp 		0.010 1.000 1 2000 2000