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: 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: rs1042636
rs1042636
CASR
23 0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02 0.010 1.000 1 2012 2012
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: rs104894263
rs104894263
MEN1
2 1.000 0.120 11 64809695 missense variant G/C snv 0.810 1.000 29 1997 2017
dbSNP: rs104894256
rs104894256
MEN1
1 1.000 0.120 11 64810045 missense variant A/C snv 0.800 1.000 28 1997 2017
dbSNP: rs1555164707
rs1555164707
MEN1
1 1.000 0.120 11 64805717 missense variant G/T snv 0.800 1.000 28 1997 2017
dbSNP: rs2071312
rs2071312
MEN1
1 1.000 0.120 11 64806272 missense variant C/G;T snv 0.700 1.000 28 1997 2017
dbSNP: rs794728621
rs794728621
MEN1
1 1.000 0.120 11 64807902 missense variant C/T snv 0.700 1.000 28 1997 2017
dbSNP: rs863224807
rs863224807
MEN1
1 1.000 0.120 11 64805757 missense variant G/A;T snv 0.700 1.000 28 1997 2017
dbSNP: rs1057521110
rs1057521110
MEN1
1 1.000 0.120 11 64807662 missense variant C/T snv 0.700 1.000 20 1997 2005
dbSNP: rs1114167543
rs1114167543
MEN1
2 1.000 0.120 11 64809680 missense variant A/C snv 0.700 1.000 20 1997 2005
dbSNP: rs1389398299
rs1389398299
MEN1
1 1.000 0.120 11 64809781 missense variant C/G;T snv 8.0E-06 0.700 1.000 20 1997 2005
dbSNP: rs1555165811
rs1555165811
MEN1
1 1.000 0.120 11 64808008 missense variant C/A;G snv 0.700 1.000 20 1997 2005
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: rs386134256
rs386134256
MEN1
1 1.000 0.120 11 64808042 missense variant A/G snv 0.800 1.000 18 1998 2018
dbSNP: rs376872829
rs376872829
MEN1
2 1.000 0.120 11 64808019 missense variant C/A;G;T snv 2.0E-05; 4.0E-06 0.800 1.000 14 1997 2017
dbSNP: rs587776841
rs587776841
MEN1
3 0.925 0.120 11 64809858 frameshift variant ACAG/- delins 0.700 1.000 10 1997 2014
dbSNP: rs794728648
rs794728648
MEN1
4 0.925 0.120 11 64808078 missense variant C/A;T snv 0.710 1.000 9 2001 2017
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: rs794728614
rs794728614
MEN1
1 1.000 0.120 11 64810075 missense variant G/A snv 0.800 1.000 8 2001 2017
dbSNP: rs386134250
rs386134250
MEN1
2 1.000 0.120 11 64810109 start lost T/A;C;G snv 0.710 1.000 6 2000 2017
dbSNP: rs794728625
rs794728625
MEN1
1 1.000 0.120 11 64807228 intron variant C/T snv 0.700 1.000 6 1999 2012