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: rs866395428
rs866395428
3 1.000 0.040 6 79493633 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs878853382
rs878853382
1 6 79513293 frameshift variant TAGCTTC/- delins 0.700 1.000 1 2013 2013