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: rs1553873247
rs1553873247
1 1.000 0.040 4 1938449 splice region variant GAGA/- delins 0.700 0
dbSNP: rs14647
rs14647
1 1.000 0.040 4 1982108 3 prime UTR variant G/T snv 1.9E-03 0.010 1.000 1 2011 2011