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: rs912001256
rs912001256
SCN4A
17 0.851 0.240 17 63947062 stop gained G/A snv 0.700 0
dbSNP: rs886044514
rs886044514
CLTA ; GNE
2 1.000 0.120 9 36249352 stop gained C/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs879253979
rs879253979
DYNC1H1
4 0.925 0.120 14 101979951 missense variant C/G;T snv 0.700 0
dbSNP: rs878854378
rs878854378
TTN ; TTN-AS1
33 0.742 0.320 2 178533657 inframe deletion GTT/- delins 0.700 0
dbSNP: rs80338800
rs80338800
CAPN3 ; LOC105370794
21 0.827 0.120 15 42387803 frameshift variant A/- delins 0.700 0
dbSNP: rs797046064
rs797046064
TTN ; TTN-AS1
1 2 178634010 frameshift variant CAAA/- delins 0.700 0
dbSNP: rs797046060
rs797046060
TTN ; TTN-AS1
1 2 178719588 frameshift variant GC/T delins 0.700 0
dbSNP: rs797046047
rs797046047
TPM3
2 1.000 0.080 1 154170441 missense variant C/A snv 0.700 0
dbSNP: rs797045935
rs797045935
RYR1
1 19 38506860 stop gained C/A;T snv 0.700 0
dbSNP: rs797045934
rs797045934
RYR1
1 19 38467813 splice donor variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs797045933
rs797045933
RYR1
1 19 38467665 inframe insertion -/TCCTAT delins 0.700 0
dbSNP: rs797045932
rs797045932
RYR1
1 19 38460515 frameshift variant G/- delins 2.8E-05 0.700 0
dbSNP: rs797045931
rs797045931
RYR1
1 19 38457580 frameshift variant TGGCC/- delins 0.700 0
dbSNP: rs797045730
rs797045730
MYH7 ; MHRT
1 14 23416071 missense variant A/G snv 0.700 0
dbSNP: rs797045479
rs797045479
COL6A3
1 2 237361150 stop gained G/A snv 0.700 0
dbSNP: rs797045478
rs797045478
COL6A2
1 21 46116045 missense variant G/A snv 0.700 0
dbSNP: rs797045477
rs797045477
COL6A1
1 21 45990771 splice acceptor variant A/G snv 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: rs774919231
rs774919231
RYR1
3 1.000 0.120 19 38451827 stop gained G/A;T snv 8.0E-06 0.700 0
dbSNP: rs774521989
rs774521989
COL6A2
1 21 46132125 missense variant C/T snv 1.6E-05 4.9E-05 0.700 0
dbSNP: rs77051277
rs77051277
LOC105371433
1 1 150167075 downstream gene variant A/G snv 2.2E-04 0.700 1.000 1 2019 2019
dbSNP: rs757082154
rs757082154
TTN ; TTN-AS1
8 1.000 0.120 2 178527491 stop gained G/A snv 1.2E-05 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
dbSNP: rs746721983
rs746721983
TTN ; TTN-AS1
1 2 178706629 stop gained G/A snv 2.8E-05 2.1E-05 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