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: rs878854379
rs878854379
COL6A3
2 0.925 0.120 2 237344754 stop gained G/A;C snv 4.1E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057518970
rs1057518970
RYR1
3 1.000 0.120 19 38448398 missense variant C/T snv 8.0E-06 2.1E-05 0.700 0
dbSNP: rs1057518971
rs1057518971
LMNA
1 1.000 0.120 1 156115048 missense variant G/T snv 0.700 0
dbSNP: rs1554301637
rs1554301637
LAMA2
3 0.925 0.120 6 129464289 splice acceptor variant TCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCTG/- delins 0.700 0
dbSNP: rs1562530132
rs1562530132
LAMA2
1 1.000 0.120 6 129401238 frameshift variant T/- del 0.700 0
dbSNP: rs1564341846
rs1564341846
POMT1
8 0.790 0.280 9 131508926 missense variant C/A snv 0.700 0
dbSNP: rs1567782714
rs1567782714
ADGRG1
5 0.882 0.120 16 57655528 stop gained C/T snv 0.700 0
dbSNP: rs542489955
rs542489955
FKBP14 ; LOC105375215
6 0.851 0.120 7 30019110 frameshift variant -/G delins 5.5E-04 5.4E-04 0.700 0
dbSNP: rs746361190
rs746361190
CNTNAP1
4 0.882 0.120 17 42691905 missense variant C/A snv 4.0E-06 0.700 0
dbSNP: rs746438011
rs746438011
SYNE1
4 0.882 0.120 6 152430672 missense variant A/G;T snv 1.2E-05 0.700 0
dbSNP: rs774919231
rs774919231
RYR1
3 1.000 0.120 19 38451827 stop gained G/A;T snv 8.0E-06 0.700 0
dbSNP: rs797044988
rs797044988
COL6A3
3 0.882 0.160 2 237359390 splice acceptor variant T/G snv 0.700 0
dbSNP: rs80338800
rs80338800
CAPN3 ; LOC105370794
21 0.827 0.120 15 42387803 frameshift variant A/- delins 0.700 0
dbSNP: rs886041287
rs886041287
TTN ; TTN-AS1
8 0.882 0.160 2 178535594 frameshift variant -/GT delins 0.700 0
dbSNP: rs104894681
rs104894681
FKRP
10 0.776 0.200 19 46756793 missense variant C/T snv 9.0E-06 0.020 1.000 2 2018 2018
dbSNP: rs121913572
rs121913572
LAMA2
3 0.882 0.120 6 129481422 stop gained C/G;T snv 5.2E-05 3.5E-05 0.010 1.000 1 2003 2003
dbSNP: rs142336618
rs142336618
GMPPB
5 0.827 0.120 3 49723648 missense variant C/G snv 4.5E-06; 7.0E-04 5.3E-04 0.010 1.000 1 2015 2015
dbSNP: rs146163970
rs146163970
CHKB ; CHKB-CPT1B ; CHKB-DT
1 1.000 0.120 22 50582319 missense variant G/A snv 3.0E-04 2.4E-04 0.010 1.000 1 2016 2016
dbSNP: rs202160208
rs202160208
GMPPB
9 0.827 0.160 3 49722056 missense variant C/T snv 2.9E-04 1.8E-04 0.010 1.000 1 2015 2015
dbSNP: rs763993653
rs763993653
CHKB ; CPT1B ; CHKB-CPT1B
1 1.000 0.120 22 50579808 missense variant A/T snv 4.0E-06 0.010 1.000 1 2016 2016