Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1563221666
rs1563221666
SFTPC
0.882 0.120 8 22162694 missense variant C/T snv
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs199474699
rs199474699
CYTB ; ND6 ; TRNP
MT 15990 non coding transcript exon variant C/T snv
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs199476140
rs199476140
COX1 ; ND1 ; ND2 ; TRNQ
MT 4365 non coding transcript exon variant -/A delins
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs199564797
rs199564797
SELENON
0.742 0.360 1 25809150 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs2754158
rs2754158
MYH7
0.882 0.080 14 23424876 missense variant G/A;C;T snv 1.2E-05
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs370634440
rs370634440
RYR1
19 38463499 missense variant G/A;T snv 1.7E-04; 8.0E-06
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs375014127
rs375014127
ANO5
1.000 0.120 11 22262162 missense variant G/A;T snv 4.0E-06; 6.8E-05
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs386834236
rs386834236
GAA
0.882 0.120 17 80104542 intron variant T/G snv 3.4E-03 3.8E-03
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs535661345
rs535661345
COL6A3
0.925 0.120 2 237372173 missense variant C/T snv 2.0E-04 2.1E-05
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs543860009
rs543860009
TTN ; TTN-AS1
0.742 0.320 2 178589003 stop gained G/A;T snv
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs545623839
rs545623839
MYH2 ; MYHAS
1.000 0.160 17 10533349 stop gained G/A snv 2.4E-05
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs55960271
rs55960271
CLCN1
0.882 0.120 7 143351678 stop gained C/A;T snv 4.0E-06; 2.9E-03
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs564856283
rs564856283
MYBPC1
12 101642495 missense variant G/A;C snv 3.2E-05
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs745886248
rs745886248
SELENON
0.742 0.360 1 25811710 missense variant G/A;C;T snv 4.3E-06; 4.3E-06; 4.3E-06
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs746361190
rs746361190
CNTNAP1
0.882 0.120 17 42691905 missense variant C/A snv 4.0E-06
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs746721983
rs746721983
TTN ; TTN-AS1
2 178706629 stop gained G/A snv 2.8E-05 2.1E-05
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs751995154
rs751995154
ACADVL ; MIR324
1.000 0.200 17 7224011 missense variant G/A;C snv 2.8E-05 3.5E-05
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs757082154
rs757082154
TTN ; TTN-AS1
1.000 0.120 2 178527491 stop gained G/A snv 1.2E-05
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs774521989
rs774521989
COL6A2
21 46132125 missense variant C/T snv 1.6E-05 4.9E-05
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs774919231
rs774919231
RYR1
1.000 0.120 19 38451827 stop gained G/A;T snv 8.0E-06
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs781565158
rs781565158
PYROXD1
0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs797045477
rs797045477
COL6A1
21 45990771 splice acceptor variant A/G snv
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs797045478
rs797045478
COL6A2
21 46116045 missense variant G/A snv
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs797045479
rs797045479
COL6A3
2 237361150 stop gained G/A snv
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs797045730
rs797045730
MYH7 ; MHRT
14 23416071 missense variant A/G snv
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0