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: rs3842689
rs3842689
2 0.925 0.080 3 119782551 intron variant GAGAAG/-;GAGAAGGAGAAG delins 0.35 0.010 1.000 1 2016 2016