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: rs192446476
rs192446476
DYM
1 18 49362269 intron variant G/C snv 5.5E-03 0.700 1.000 1 2017 2017
dbSNP: rs79943003
rs79943003
DYM
1 18 49227694 intron variant G/A;T snv 0.700 1.000 1 2017 2017