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: rs143811622
rs143811622
1 1 117612524 intron variant GTCA/-;GTCAGTCA delins 0.27 0.700 1.000 1 2016 2016