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: rs6047982
rs6047982
2 1.000 0.080 20 22265812 intron variant T/A;G snv 0.700 1.000 1 2018 2018