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: rs886039785
rs886039785
DMD
0.925 0.120 X 31496876 stop gained C/T snv
CUI: C0234182
Disease: Gowers sign
Gowers sign 		0.700 0