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: rs113090017
rs113090017
4 0.882 0.200 12 100532538 stop gained C/A;G;T snv 4.0E-06; 2.4E-05 0.700 0
dbSNP: rs879255644
rs879255644
2 0.925 0.200 12 100511115 inframe insertion -/AAA delins 0.700 0