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: rs786204395
rs786204395
1 1.000 0.120 12 32796150 frameshift variant GGTGTT/TTTC delins 0.700 1.000 3 2010 2013