Gene: CASQ2 ×
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: rs397507556
rs397507556
CASQ2
1 1.000 0.080 1 115768445 stop gained G/A;T snv 4.0E-06; 1.6E-05 0.710 1.000 2 2002 2019
dbSNP: rs763955301
rs763955301
CASQ2
1 1.000 0.080 1 115732961 frameshift variant A/- delins 7.0E-06 0.700 1.000 2 2009 2011
dbSNP: rs1060502164
rs1060502164
CASQ2
1 1.000 0.080 1 115744914 splice acceptor variant T/C snv 0.700 1.000 1 2002 2002
dbSNP: rs397516643
rs397516643
CASQ2
1 1.000 0.080 1 115732927 frameshift variant TGA/GT delins 0.700 1.000 1 2002 2002
dbSNP: rs121434549
rs121434549
CASQ2
2 0.925 0.080 1 115705212 missense variant C/G;T snv 8.0E-06 0.700 0
dbSNP: rs139228801
rs139228801
CASQ2
1 1.000 0.080 1 115705208 missense variant G/A;T snv 3.2E-05 0.700 0
dbSNP: rs397507555
rs397507555
CASQ2
1 1.000 0.080 1 115768480 frameshift variant T/- del 0.700 0
dbSNP: rs876657635
rs876657635
CASQ2
1 1.000 0.080 1 115702996 splice acceptor variant C/A snv 0.700 0
dbSNP: rs749547712
rs749547712
CASQ2
3 0.882 0.080 1 115768444 missense variant C/T snv 1.2E-05 0.050 1.000 5 2008 2019
dbSNP: rs121434550
rs121434550
CASQ2
2 0.925 0.080 1 115738256 missense variant A/T snv 0.020 1.000 2 2006 2008
dbSNP: rs146664754
rs146664754
CASQ2
1 1.000 0.080 1 115732940 missense variant G/C snv 7.2E-04 5.4E-04 0.010 1.000 1 2016 2016
dbSNP: rs151115064
rs151115064
CASQ2
1 1.000 0.080 1 115725543 missense variant G/A snv 5.3E-05 7.9E-05 0.010 1.000 1 2019 2019
dbSNP: rs886039816
rs886039816
CASQ2
2 0.925 0.080 1 115732968 missense variant T/C snv 0.010 1.000 1 2019 2019