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: rs794728640
rs794728640
MEN1
2 1.000 0.120 11 64807914 frameshift variant TCTG/- delins 0.700 1.000 6 1998 2014
dbSNP: rs794728652
rs794728652
MEN1
2 1.000 0.120 11 64807551 splice donor variant C/A;T snv 4.0E-06 0.700 1.000 6 1998 2012
dbSNP: rs794728657
rs794728657
MEN1
2 1.000 0.120 11 64809750 inframe deletion TTC/- delins 0.700 1.000 6 1997 2012
dbSNP: rs1555166609
rs1555166609
MEN1
1 1.000 0.120 11 64809909 frameshift variant -/GCTGG delins 0.700 1.000 4 1998 2014
dbSNP: rs750904332
rs750904332
MEN1
2 1.000 0.120 11 64806312 stop gained G/A;C;T snv 4.0E-06 0.700 1.000 4 1997 2014
dbSNP: rs794728615
rs794728615
MEN1
5 0.882 0.160 11 64810025 stop gained G/A;C snv 4.2E-06 0.710 1.000 4 1998 2014
dbSNP: rs1114167482
rs1114167482
MEN1
2 1.000 0.120 11 64806259 stop gained C/T snv 0.700 1.000 3 1998 2012
dbSNP: rs1114167489
rs1114167489
MEN1
2 1.000 0.120 11 64806231 splice donor variant C/G;T snv 0.700 1.000 3 2002 2007
dbSNP: rs1555166365
rs1555166365
MEN1
1 1.000 0.120 11 64809732 stop gained C/T snv 0.700 1.000 3 2002 2014
dbSNP: rs397515385
rs397515385
MEN1
2 1.000 0.120 11 64809708 frameshift variant G/- del 0.700 1.000 3 1997 1998
dbSNP: rs794728622
rs794728622
MEN1
1 1.000 0.120 11 64807890 splice donor variant C/A;T snv 0.700 1.000 3 1998 2007
dbSNP: rs794728639
rs794728639
MEN1
2 1.000 0.120 11 64809803 frameshift variant G/- delins 0.700 1.000 3 1997 2007
dbSNP: rs104894257
rs104894257
MEN1
1 1.000 0.120 11 64807951 stop gained C/T snv 0.700 1.000 2 1997 2007
dbSNP: rs1057520733
rs1057520733
MEN1
1 1.000 0.120 11 64807554 stop gained G/A snv 0.700 1.000 2 1998 2011
dbSNP: rs1114167498
rs1114167498
MEN1
2 1.000 0.120 11 64806370 splice acceptor variant T/C snv 0.700 1.000 2 2002 2007
dbSNP: rs1555165377
rs1555165377
MEN1
1 1.000 0.120 11 64807220 splice acceptor variant C/G snv 0.700 1.000 2 2002 2007
dbSNP: rs1565642765
rs1565642765
MEN1
1 1.000 0.120 11 64805772 splice acceptor variant T/A snv 0.700 1.000 2 2002 2007
dbSNP: rs730882136
rs730882136
MEN1
1 1.000 0.120 11 64809903 frameshift variant -/GGGGC delins 0.700 1.000 2 1997 2012
dbSNP: rs869025185
rs869025185
MEN1
2 1.000 0.120 11 64805731 inframe deletion CCT/- delins 0.700 1.000 2 1997 2011
dbSNP: rs886042035
rs886042035
MEN1
2 1.000 0.120 11 64808101 splice acceptor variant T/C;G snv 0.700 1.000 2 2002 2007
dbSNP: rs1114167486
rs1114167486
MEN1
2 1.000 0.120 11 64809873 frameshift variant G/- delins 0.700 1.000 1 2002 2002
dbSNP: rs149383809
rs149383809
MEN1
2 0.925 0.120 11 64805722 missense variant T/A snv 7.2E-05 3.5E-05 0.010 1.000 1 2011 2011
dbSNP: rs1555165360
rs1555165360
MEN1
1 1.000 0.120 11 64807180 frameshift variant T/- delins 0.700 1.000 1 2007 2007
dbSNP: rs1555165488
rs1555165488
MEN1
2 0.925 0.120 11 64807566 frameshift variant -/AGCTCCA delins 0.700 1.000 1 2018 2018
dbSNP: rs1555166567
rs1555166567
MEN1
1 1.000 0.120 11 64809879 stop gained G/C snv 0.700 1.000 1 2005 2005