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: rs1064651
rs1064651
GBA
6 0.732 0.360 1 155235727 missense variant C/G snv 1.3E-04 2.0E-04 0.010 1.000 1 2006 2006
dbSNP: rs121908131
rs121908131
APTX
3 0.851 0.240 9 32984784 missense variant G/A snv 2.8E-05 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs121908132
rs121908132
APTX
3 0.851 0.240 9 32974544 missense variant A/C snv 0.010 1.000 1 2011 2011
dbSNP: rs1335702493
rs1335702493
APTX
4 0.925 0.200 9 32973507 stop gained C/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs137852763
rs137852763
MRE11
6 0.851 0.320 11 94476318 missense variant C/G snv 0.010 1.000 1 2011 2011