LMOD3, leiomodin 3, 56203

N. diseases: 67; N. variants: 8
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1274699363
rs1274699363
1.000 3 69119989 frameshift variant CTTTT/- delins 8.6E-06
CUI: C4015360
Disease: NEMALINE MYOPATHY 10
NEMALINE MYOPATHY 10
0.700 0
dbSNP: rs1368453406
rs1368453406
1.000 3 69119989 frameshift variant C/- del
CUI: C4015360
Disease: NEMALINE MYOPATHY 10
NEMALINE MYOPATHY 10
0.700 0
dbSNP: rs1426709672
rs1426709672
1.000 3 69119879 frameshift variant C/- delins 6.1E-06
CUI: C4015360
Disease: NEMALINE MYOPATHY 10
NEMALINE MYOPATHY 10
0.700 0
dbSNP: rs724159964
rs724159964
1.000 3 69119154 stop gained G/A snv 4.0E-06 7.0E-06
CUI: C4015360
Disease: NEMALINE MYOPATHY 10
NEMALINE MYOPATHY 10
0.700 0
dbSNP: rs724159965
rs724159965
1.000 3 69119286 stop gained C/A snv
CUI: C4015360
Disease: NEMALINE MYOPATHY 10
NEMALINE MYOPATHY 10
0.700 0
dbSNP: rs727502797
rs727502797
1.000 3 69122248 frameshift variant -/G delins 8.0E-06
CUI: C4015360
Disease: NEMALINE MYOPATHY 10
NEMALINE MYOPATHY 10
0.700 0
dbSNP: rs727502798
rs727502798
1.000 3 69119250 inframe deletion GTT/- delins 7.0E-06
CUI: C4015360
Disease: NEMALINE MYOPATHY 10
NEMALINE MYOPATHY 10
0.700 0
dbSNP: rs727502799
rs727502799
1.000 3 69119255 frameshift variant TT/- delins 5.6E-05
CUI: C4015360
Disease: NEMALINE MYOPATHY 10
NEMALINE MYOPATHY 10
0.700 0