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: rs398124628
rs398124628
1 1.000 0.040 X 48791260 frameshift variant -/ACAGCCACCGCTGCAGCTGC delins 0.700 0