Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs80356462
rs80356462
SIX5 ; DM1-AS
1 1.000 0.040 19 45767073 missense variant C/T snv 5.5E-05 9.1E-05 0.800 1.000 1 2007 2007