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: rs1556770954
rs1556770954
1 1.000 0.160 X 47169456 frameshift variant C/- del 0.700 1.000 2 2010 2011
dbSNP: rs1556778986
rs1556778986
1 1.000 0.160 X 47181214 splice acceptor variant G/A snv 0.700 0
dbSNP: rs267607000
rs267607000
1 1.000 0.160 X 47180493 stop gained G/A snv 0.700 0
dbSNP: rs886044715
rs886044715
1 1.000 0.160 X 47182268 frameshift variant -/A delins 0.700 0
dbSNP: rs886044718
rs886044718
1 1.000 0.160 X 47173143 stop gained C/T snv 0.700 0