Source: CURATED ×
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: rs797045477
rs797045477
COL6A1
1 21 45990771 splice acceptor variant A/G snv 0.700 0
dbSNP: rs797045478
rs797045478
COL6A2
1 21 46116045 missense variant G/A snv 0.700 0
dbSNP: rs797045479
rs797045479
COL6A3
1 2 237361150 stop gained G/A snv 0.700 0
dbSNP: rs797045730
rs797045730
MYH7 ; MHRT
1 14 23416071 missense variant A/G snv 0.700 0
dbSNP: rs797045931
rs797045931
RYR1
1 19 38457580 frameshift variant TGGCC/- delins 0.700 0
dbSNP: rs797045932
rs797045932
RYR1
1 19 38460515 frameshift variant G/- delins 2.8E-05 0.700 0
dbSNP: rs797045933
rs797045933
RYR1
1 19 38467665 inframe insertion -/TCCTAT delins 0.700 0
dbSNP: rs797045934
rs797045934
RYR1
1 19 38467813 splice donor variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs797045935
rs797045935
RYR1
1 19 38506860 stop gained C/A;T snv 0.700 0
dbSNP: rs797046060
rs797046060
TTN ; TTN-AS1
1 2 178719588 frameshift variant GC/T delins 0.700 0
dbSNP: rs797046064
rs797046064
TTN ; TTN-AS1
1 2 178634010 frameshift variant CAAA/- delins 0.700 0
dbSNP: rs4149056
rs4149056
SLCO1B1
11 0.633 0.480 12 21178615 missense variant T/C snv 0.13 0.12 0.790 1.000 1 2008 2019
dbSNP: rs121908188
rs121908188
SELENON
25 0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04 0.700 0
dbSNP: rs199564797
rs199564797
SELENON
25 0.742 0.360 1 25809150 missense variant G/A snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs543860009
rs543860009
TTN ; TTN-AS1
33 0.742 0.320 2 178589003 stop gained G/A;T snv 0.700 0
dbSNP: rs745886248
rs745886248
SELENON
25 0.742 0.360 1 25811710 missense variant G/A;C;T snv 4.3E-06; 4.3E-06; 4.3E-06 0.700 0
dbSNP: rs878854378
rs878854378
TTN ; TTN-AS1
33 0.742 0.320 2 178533657 inframe deletion GTT/- delins 0.700 0
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
19 0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 0.700 1.000 2 2004 2008
dbSNP: rs1556425596
rs1556425596
COL6A1
37 0.752 0.240 21 45989967 intron variant C/T snv 0.700 0
dbSNP: rs104894299
rs104894299
RAPSN
5 0.827 0.120 11 47448079 missense variant G/T snv 1.6E-03 1.5E-03 0.700 0
dbSNP: rs1555377415
rs1555377415
IRF2BPL ; LOC107984638
18 0.827 0.200 14 77027274 stop gained G/C snv 0.700 0
dbSNP: rs80338800
rs80338800
CAPN3 ; LOC105370794
21 0.827 0.120 15 42387803 frameshift variant A/- delins 0.700 0
dbSNP: rs137854521
rs137854521
ANO5
9 0.851 0.200 11 22221100 frameshift variant -/A delins 0.700 0
dbSNP: rs781565158
rs781565158
PYROXD1
21 0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05 0.700 0
dbSNP: rs912001256
rs912001256
SCN4A
17 0.851 0.240 17 63947062 stop gained G/A snv 0.700 0