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: rs137852737
rs137852737
RETREG1
2 0.925 0.080 5 16565788 stop gained G/A snv 0.700 0
dbSNP: rs137852739
rs137852739
RETREG1
2 0.925 0.080 5 16477736 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs886037748
rs886037748
RETREG1
1 1.000 0.080 5 16478081 frameshift variant T/- delins 0.700 0