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: rs121913228
rs121913228
CTNNB1
14 0.742 0.200 3 41224621 missense variant T/C;G snv 0.700 1.000 1 2014 2014
dbSNP: rs121913400
rs121913400
CTNNB1
26 0.683 0.360 3 41224610 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs386134259
rs386134259
MEN1
2 1.000 0.120 11 64807577 stop gained G/A;C;T snv 0.700 0
dbSNP: rs794728648
rs794728648
MEN1
4 0.925 0.120 11 64808078 missense variant C/A;T snv 0.700 0
dbSNP: rs121434264
rs121434264
CDC73 ; LOC101929160
6 0.851 0.080 1 193125171 missense variant T/C snv 0.010 1.000 1 2005 2005
dbSNP: rs1480444018
rs1480444018
PAF1 ; SAMD4B
2 19 39386149 missense variant T/C snv 0.010 1.000 1 2006 2006
dbSNP: rs1801725
rs1801725
CASR
39 0.633 0.600 3 122284910 missense variant G/T snv 0.13 0.11 0.010 1.000 1 2001 2001
dbSNP: rs879647
rs879647
SDHAF2
1 11 61437962 intron variant G/A;C snv 0.83 0.010 1.000 1 2010 2010
dbSNP: rs971586985
rs971586985
CDC73
3 1.000 0.160 1 193212458 missense variant G/A;T snv 4.0E-06 2.1E-05 0.010 1.000 1 2006 2006