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: rs28931612
rs28931612
MEN1
2 0.925 0.120 11 64810034 stop gained C/A;T snv 0.700 1.000 20 1997 2005
dbSNP: rs387906552
rs387906552
MEN1
1 1.000 0.120 11 64805745 missense variant C/T snv 0.700 1.000 20 1997 2005
dbSNP: rs794728624
rs794728624
MEN1
2 1.000 0.120 11 64807613 missense variant C/T snv 0.700 1.000 20 1997 2005
dbSNP: rs767319284
rs767319284
MEN1 ; MAP4K2
2 1.000 0.120 11 64804621 frameshift variant G/-;GG delins 0.700 1.000 15 1997 2015
dbSNP: rs587776841
rs587776841
MEN1
3 0.925 0.120 11 64809858 frameshift variant ACAG/- delins 0.700 1.000 10 1997 2014
dbSNP: rs1114167491
rs1114167491
MEN1
2 1.000 0.120 11 64809977 missense variant C/T snv 0.700 1.000 8 2001 2017
dbSNP: rs1298484645
rs1298484645
MEN1
1 1.000 0.120 11 64805666 missense variant G/A snv 4.0E-06 0.700 1.000 8 2001 2017
dbSNP: rs745404679
rs745404679
MEN1 ; MAP4K2
1 1.000 0.120 11 64804549 missense variant G/A;T snv 1.1E-04; 4.0E-06 0.700 1.000 8 2001 2017
dbSNP: rs1060499974
rs1060499974
MEN1 ; MAP4K2
2 1.000 0.120 11 64805141 stop gained G/A snv 7.0E-06 0.700 1.000 7 1997 2015
dbSNP: rs104894261
rs104894261
MEN1 ; MAP4K2
2 1.000 0.120 11 64804588 stop gained G/A snv 0.700 1.000 6 1997 2014
dbSNP: rs794728625
rs794728625
MEN1
1 1.000 0.120 11 64807228 intron variant C/T snv 0.700 1.000 6 1999 2012
dbSNP: rs794728631
rs794728631
MEN1 ; MAP4K2
2 1.000 0.120 11 64804507 stop gained G/A snv 0.700 1.000 6 1999 2007
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: rs104894267
rs104894267
MEN1 ; MAP4K2
2 1.000 0.120 11 64804789 stop gained G/A;T snv 7.0E-06 0.700 1.000 4 2004 2011
dbSNP: rs1114167531
rs1114167531
MEN1 ; MAP4K2
2 1.000 0.120 11 64804777 frameshift variant -/CTCTCGGC delins 0.700 1.000 4 2002 2008
dbSNP: rs1114167536
rs1114167536
MEN1 ; MAP4K2
2 1.000 0.120 11 64804753 frameshift variant -/ACGGCTCC delins 0.700 1.000 4 2004 2010
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: rs764570645
rs764570645
MEN1 ; MAP4K2
1 1.000 0.120 11 64805023 splice donor variant CCTGTCCCTCA/-;CCTGTCCCTCACCTGTCCCTCA delins 0.700 1.000 4 1998 2007
dbSNP: rs864622615
rs864622615
MEN1 ; MAP4K2
1 1.000 0.120 11 64805171 stop gained G/A snv 0.700 1.000 4 2003 2017
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: rs1114167524
rs1114167524
MEN1 ; MAP4K2
2 1.000 0.120 11 64805159 frameshift variant -/GGAC ins 0.700 1.000 3 1997 2006