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: 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: rs1563221666
rs1563221666
SFTPC
14 0.882 0.120 8 22162694 missense variant C/T snv 0.700 0
dbSNP: rs137854521
rs137854521
ANO5
9 0.851 0.200 11 22221100 frameshift variant -/A delins 0.700 0
dbSNP: rs375014127
rs375014127
ANO5
5 1.000 0.120 11 22262162 missense variant G/A;T snv 4.0E-06; 6.8E-05 0.700 0
dbSNP: rs1057518855
rs1057518855
ANO5
1 11 22270443 splice donor variant -/T delins 0.700 0
dbSNP: rs797045730
rs797045730
MYH7 ; MHRT
1 14 23416071 missense variant A/G snv 0.700 0
dbSNP: rs2754158
rs2754158
MYH7
4 0.882 0.080 14 23424876 missense variant G/A;C;T snv 1.2E-05 0.700 0
dbSNP: rs797045479
rs797045479
COL6A3
1 2 237361150 stop gained G/A snv 0.700 0
dbSNP: rs535661345
rs535661345
COL6A3
3 0.925 0.120 2 237372173 missense variant C/T snv 2.0E-04 2.1E-05 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: rs121908188
rs121908188
SELENON
25 0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04 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: rs33428
rs33428
ZNF536
1 19 30446936 intron variant A/G snv 0.71 0.700 1.000 1 2019 2019
dbSNP: rs1057518866
rs1057518866
DMD
1 X 32343174 stop gained A/C snv 0.700 0
dbSNP: rs1057518834
rs1057518834
DMD
9 X 32849737 frameshift variant C/- delins 0.700 0
dbSNP: rs121908627
rs121908627
CLTA ; GNE
3 0.925 0.160 9 36217448 missense variant C/A;T snv 8.9E-04; 1.7E-03 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: 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: rs774919231
rs774919231
RYR1
3 1.000 0.120 19 38451827 stop gained G/A;T snv 8.0E-06 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: rs370634440
rs370634440
RYR1
1 19 38463499 missense variant G/A;T snv 1.7E-04; 8.0E-06 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: rs1057518773
rs1057518773
RYR1
1 19 38505868 stop gained G/A snv 0.700 0