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: rs369947678
rs369947678
UBQLN2
2 0.925 0.080 X 56565446 missense variant C/A;G;T snv 2.0E-05; 2.7E-05; 3.3E-04 0.800 1.000 6 2011 2015
dbSNP: rs387906709
rs387906709
UBQLN2
9 0.776 0.120 X 56565363 missense variant C/A;T snv 0.800 1.000 6 2011 2015
dbSNP: rs387906710
rs387906710
UBQLN2
3 0.882 0.120 X 56565362 missense variant C/T snv 0.800 1.000 6 2011 2015
dbSNP: rs387906711
rs387906711
UBQLN2
6 0.807 0.120 X 56565389 missense variant C/A;T snv 6.6E-06 0.800 1.000 6 2011 2015
dbSNP: rs1490021329
rs1490021329
UBQLN2
2 0.925 0.080 X 56564438 missense variant C/A snv 5.5E-06 0.700 1.000 6 2011 2015
dbSNP: rs387906712
rs387906712
UBQLN2
1 1.000 X 56565398 missense variant C/T snv 2.0E-05 4.7E-05 0.700 1.000 6 2011 2015
dbSNP: rs749463696
rs749463696
UBQLN2
1 1.000 X 56564720 missense variant G/A snv 0.700 1.000 6 2011 2015
dbSNP: rs1243726473
rs1243726473
UBQLN2
1 1.000 X 56565147 missense variant A/G snv 1.1E-05 0.700 0
dbSNP: rs374522677
rs374522677
UBQLN2
2 0.925 0.080 X 56564337 missense variant G/A snv 5.5E-06 0.700 0