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: rs121434549
rs121434549
CASQ2
2 0.925 0.080 1 115705212 missense variant C/G;T snv 8.0E-06 0.820 1.000 3 2011 2017
dbSNP: rs886039816
rs886039816
CASQ2
2 0.925 0.080 1 115732968 missense variant T/C snv 0.800 1.000 2 2011 2016
dbSNP: rs121434550
rs121434550
CASQ2
2 0.925 0.080 1 115738256 missense variant A/T snv 0.800 1.000 1 2011 2011
dbSNP: rs749547712
rs749547712
CASQ2
3 0.882 0.080 1 115768444 missense variant C/T snv 1.2E-05 0.710 1.000 7 2001 2016
dbSNP: rs1436844070
rs1436844070
CASQ2
1 1.000 0.080 1 115768378 missense variant T/C snv 8.0E-06 2.1E-05 0.700 0
dbSNP: rs1553322494
rs1553322494
RYR2
1 1.000 0.080 1 237783708 missense variant T/C snv 0.700 0
dbSNP: rs776874142
rs776874142
CASQ2
1 1.000 0.080 1 115725508 stop gained C/T snv 4.0E-06 7.1E-06 0.700 0
dbSNP: rs786205106
rs786205106
CASQ2
1 1.000 0.080 1 115740794 frameshift variant AAGAATATACAGGCTT/- delins 0.700 0
dbSNP: rs794728721
rs794728721
RYR2
3 0.925 0.080 1 237445489 missense variant G/A snv 0.010 1.000 1 2015 2015