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: rs8047469
rs8047469
1 1.000 0.040 16 31140200 intron variant A/C;G;T snv 0.700 1.000 1 2019 2019