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: rs869025495
rs869025495
6 0.851 0.080 1 179564715 missense variant G/A snv 0.700 1.000 5 2004 2007
dbSNP: rs1272948499
rs1272948499
3 0.925 0.080 1 179575709 frameshift variant C/- delins 1.4E-05 0.700 0