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: rs267607046
rs267607046
SH3PXD2B
1 1.000 0.160 5 172422445 missense variant G/A snv 1.2E-05 0.820 1.000 3 2010 2015
dbSNP: rs367543284
rs367543284
SH3PXD2B
2 0.925 0.200 5 172382035 splice donor variant C/T snv 0.700 0
dbSNP: rs775217258
rs775217258
SH3PXD2B
1 1.000 0.160 5 172422498 splice acceptor variant T/G snv 4.1E-06 0.700 0
dbSNP: rs794728005
rs794728005
SH3PXD2B
1 1.000 0.160 5 172422424 frameshift variant -/A delins 7.0E-06 0.700 0
dbSNP: rs794728006
rs794728006
SH3PXD2B
1 1.000 0.160 5 172350406 frameshift variant C/- delins 0.700 0