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: rs143739249
rs143739249
STAMBP ; LOC105374807
1 1.000 0.160 2 73830968 missense variant C/T snv 5.6E-05 9.1E-05 0.800 1.000 1 2013 2013
dbSNP: rs397509387
rs397509387
STAMBP ; LOC105374807
1 1.000 0.160 2 73830981 missense variant A/G snv 7.0E-06 0.800 1.000 1 2013 2013
dbSNP: rs397514697
rs397514697
STAMBP
1 1.000 0.160 2 73845186 missense variant T/A snv 8.0E-06 2.1E-05 0.800 1.000 1 2013 2013
dbSNP: rs766580482
rs766580482
STAMBP
1 1.000 0.160 2 73847718 missense variant C/A;T snv 1.2E-05 0.700 1.000 1 2018 2018
dbSNP: rs781694797
rs781694797
STAMBP ; LOC105374807
1 1.000 0.160 2 73831044 missense variant A/G snv 4.8E-05 1.4E-05 0.700 1.000 1 2013 2013
dbSNP: rs1553382055
rs1553382055
STAMBP
1 1.000 0.160 2 73847660 stop gained C/T snv 0.700 0
dbSNP: rs202100019
rs202100019
STAMBP ; LOC112268419
1 1.000 0.160 2 73850446 missense variant C/T snv 0.700 0
dbSNP: rs397509388
rs397509388
STAMBP
1 1.000 0.160 2 73847543 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs397509389
rs397509389
STAMBP
1 1.000 0.160 2 73844893 splice region variant G/T snv 1.6E-05 2.8E-05 0.700 0
dbSNP: rs397509390
rs397509390
STAMBP
1 1.000 0.160 2 73862254 stop gained C/G;T snv 8.0E-06 0.700 0
dbSNP: rs797046015
rs797046015
STAMBP ; LOC112268419
1 1.000 0.160 2 73860046 splice region variant T/G snv 0.700 0
dbSNP: rs886037633
rs886037633
STAMBP
1 1.000 0.160 2 73847421 frameshift variant C/- delins 0.700 0