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: rs387906560
rs387906560
2 0.925 0.160 9 12704545 frameshift variant A/- delins 0.700 1.000 1 1996 1996
dbSNP: rs140365820
rs140365820
2 0.925 0.160 9 12704706 splice donor variant G/A snv 5.6E-05 2.0E-04 0.700 0
dbSNP: rs104894130
rs104894130
3 0.925 0.160 9 12695626 stop gained C/G snv 6.0E-05 2.1E-04 0.010 1.000 1 1997 1997