Source: BEFREE ×
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: rs104894263
rs104894263
MEN1
1 1.000 0.120 11 64809695 missense variant G/C snv 0.810 1.000 1 1997 2017
dbSNP: rs1060499981
rs1060499981
MEN1 ; MAP4K2
1 1.000 0.120 11 64805056 missense variant G/T snv 0.710 1.000 1 2012 2012
dbSNP: rs1060499991
rs1060499991
MEN1 ; MAP4K2
1 1.000 0.120 11 64804755 stop gained C/T snv 0.710 1.000 1 1999 2012
dbSNP: rs386134250
rs386134250
MEN1
1 1.000 0.120 11 64810109 start lost T/A;C;G snv 0.710 1.000 1 2000 2017
dbSNP: rs794728615
rs794728615
MEN1
4 0.882 0.160 11 64810025 stop gained G/A;C snv 4.2E-06 0.710 1.000 1 1998 2014
dbSNP: rs794728648
rs794728648
MEN1
2 0.925 0.120 11 64808078 missense variant C/A;T snv 0.710 1.000 1 2001 2017
dbSNP: rs1042636
rs1042636
CASR
22 0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02 0.010 1.000 1 2012 2012
dbSNP: rs138550573
rs138550573
SMAD3
1 1.000 0.120 15 67165004 start lost A/G snv 2.3E-04 9.7E-04 0.010 1.000 1 2012 2012
dbSNP: rs145047094
rs145047094
AIP
3 0.882 0.160 11 67483205 missense variant G/A snv 2.0E-03 1.9E-03 0.010 1.000 1 2018 2018
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: rs2066827
rs2066827
CDKN1B ; GPR19
21 0.695 0.320 12 12718165 missense variant T/A;C;G snv 1.6E-04; 1.6E-05; 0.26 0.010 1.000 1 2015 2015
dbSNP: rs369348210
rs369348210
MEN1
1 1.000 0.120 11 64810092 synonymous variant G/A;C snv 7.3E-05 0.010 1.000 1 2010 2010
dbSNP: rs760629445
rs760629445
MEN1
2 0.925 0.120 11 64810048 missense variant C/A;T snv 4.2E-06; 8.4E-06 0.010 1.000 1 2018 2018