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: rs139428292
rs139428292
RBM8A ; LIX1L-AS1
2 1.000 0.120 1 145927447 5 prime UTR variant C/A;T snv 4.2E-06; 1.8E-02 0.710 1.000 4 2012 2017
dbSNP: rs201779890
rs201779890
RBM8A ; LIX1L-AS1
1 1.000 0.120 1 145927328 non coding transcript exon variant C/G snv 5.5E-03 5.1E-03 0.700 1.000 2 2012 2017
dbSNP: rs397515388
rs397515388
RBM8A ; LIX1L-AS1
1 1.000 0.120 1 145926616 frameshift variant -/CGCT ins 0.700 0
dbSNP: rs397515389
rs397515389
RBM8A ; LIX1L-AS1
1 1.000 0.120 1 145925920 stop gained G/A snv 0.700 0
dbSNP: rs61746197
rs61746197
PEX11B ; RBM8A ; GNRHR2
2 0.925 0.120 1 145919695 non coding transcript exon variant T/C snv 5.6E-03 5.0E-03 0.700 0