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: rs571785750
rs571785750
1 1.000 9 131038935 missense variant G/A snv 1.6E-05 2.8E-05 0.800 1.000 1 2011 2011
dbSNP: rs1564365706
rs1564365706
1 1.000 9 131026381 stop gained G/A snv 0.700 0
dbSNP: rs387906887
rs387906887
1 1.000 9 131039043 stop gained C/T snv 0.700 0
dbSNP: rs761516738
rs761516738
1 1.000 9 131036257 stop gained TG/- delins 8.1E-06 0.700 0