Source: UNIPROT

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: rs104894805
rs104894805
EMD
1.000 0.120 X 154380980 missense variant C/A;T snv
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		0.800 1.000 4 1999 2004
dbSNP: rs104894806
rs104894806
EMD
1.000 0.120 X 154380979 missense variant C/A snv
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		0.800 1.000 4 1999 2004