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: rs120074165
rs120074165
DYM
1 1.000 0.080 18 49118866 missense variant A/G snv 0.800 1.000 3 2003 2009
dbSNP: rs120074164
rs120074164
DYM
1 1.000 0.080 18 49379693 missense variant C/T snv 4.0E-06 0.700 1.000 3 2003 2009
dbSNP: rs775414124
rs775414124
DYM
2 0.925 0.280 18 49332008 splice acceptor variant T/C snv 1.6E-05 1.4E-05 0.700 0