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: rs121908847
rs121908847
2 0.925 0.240 3 189868641 missense variant A/G snv 0.800 1.000 1 2006 2006
dbSNP: rs1560277554
rs1560277554
1 1.000 0.120 3 189866732 frameshift variant -/CC delins 0.700 0