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: rs121909149
rs121909149
SH3BP2
2 0.925 0.160 4 2831573 missense variant G/A;C snv 0.820 1.000 5 2001 2014
dbSNP: rs121909146
rs121909146
SH3BP2
3 0.925 0.160 4 2831582 missense variant C/A;G;T snv 0.820 1.000 4 2001 2006
dbSNP: rs28938170
rs28938170
SH3BP2
1 1.000 0.120 4 2831587 missense variant G/A;C snv 0.700 0
dbSNP: rs28938171
rs28938171
SH3BP2
1 1.000 0.120 4 2831588 missense variant G/A snv 0.700 0
dbSNP: rs368951667
rs368951667
SH3BP2
2 1.000 0.120 4 2824693 missense variant C/G;T snv 2.4E-05 0.020 1.000 2 2009 2010
dbSNP: rs757336022
rs757336022
SH3BP2
1 1.000 0.120 4 2831581 missense variant C/A;G;T snv 9.6E-06; 4.8E-06 0.010 1.000 1 2013 2013