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: rs147934515
rs147934515
1 15 79966818 intron variant CAGGAAGGCAGGAAGGCAGGAAGG/-;CAGGAAGGCAGGAAGG;CAGGAAGGCAGGAAGGCAGGAAGGCAGGAAGG delins 0.700 1.000 1 2016 2016