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: rs67806247
rs67806247
2 19 1014539 intron variant TGATGGGGCG/-;TGATGGGGCGTGATGGGGCG delins 0.700 1.000 2 2016 2017