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: rs5820258
rs5820258
3 17 38437623 intron variant CC/-;C;CCC;CCCC;CCCCC delins 0.700 1.000 1 2016 2016