Source: ALL
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: rs121908281
rs121908281
RAX2
1 1.000 0.080 19 3770767 missense variant C/G snv 0.800 1.000 1 2004 2004
dbSNP: rs549932754
rs549932754
RAX2
1 1.000 0.080 19 3770753 inframe insertion -/GGGCCC delins 7.3E-04; 1.6E-05 1.0E-04 0.700 0
dbSNP: rs886041039
rs886041039
RAX2
1 1.000 0.080 19 3770701 frameshift variant GCCATCTGCGA/- delins 0.700 0