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: rs1569118680
rs1569118680
2 0.925 0.080 X 5903423 frameshift variant TC/- delins 0.700 0
dbSNP: rs786205133
rs786205133
4 0.882 0.120 X 74592248 missense variant T/C snv 0.700 1.000 1 2015 2015