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: rs121908545
rs121908545
SCN4A
5 0.851 0.160 17 63941939 missense variant C/A;G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs121918608
rs121918608
AHCY
3 1.000 0.080 20 34292375 missense variant T/C snv 8.0E-05 9.1E-05 0.700 1.000 1 2017 2017
dbSNP: rs1555762532
rs1555762532
RYR1
1 19 38442362 missense variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs202143236
rs202143236
PFKM ; MIR6505
2 1.000 0.160 12 48131394 splice donor variant G/A snv 1.3E-04; 4.0E-06 6.3E-05 0.700 1.000 1 2017 2017
dbSNP: rs2819742
rs2819742
RYR2
1 1 237826822 intron variant A/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs74315294
rs74315294
CPT2
6 0.851 0.200 1 53202427 missense variant C/T snv 1.4E-03 1.3E-03 0.700 1.000 1 2017 2017
dbSNP: rs750422335
rs750422335
PGAM2 ; DBNL
1 7 44062889 missense variant C/T snv 4.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs752298579
rs752298579
TANGO2
48 0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs763794604
rs763794604
CACNA1S
1 1 201077069 missense variant C/A;T snv 2.4E-05 4.2E-05 0.700 1.000 1 2017 2017
dbSNP: rs867410737
rs867410737
ATP5F1D
45 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
dbSNP: rs118204016
rs118204016
ACADVL ; MIR324
4 0.925 0.240 17 7223984 missense variant G/A snv 2.4E-05 1.4E-05 0.700 0
dbSNP: rs138058572
rs138058572
ACADVL ; MIR324
3 1.000 0.200 17 7223993 missense variant G/A snv 4.0E-06 2.1E-05 0.700 0
dbSNP: rs1555735545
rs1555735545
STRN4 ; FKRP
22 0.851 0.160 19 46746071 5 prime UTR variant G/A snv 0.700 0
dbSNP: rs28937900
rs28937900
FKRP
37 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 0.700 0
dbSNP: rs751995154
rs751995154
ACADVL ; MIR324
3 1.000 0.200 17 7224011 missense variant G/A;C snv 2.8E-05 3.5E-05 0.700 0