Source: CURATED

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: rs1458048713
rs1458048713
NEB ; RIF1
0.925 0.080 2 151499299 stop gained G/A;T snv 7.3E-06; 3.6E-05
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.700 1.000 4 2004 2016
dbSNP: rs750900690
rs750900690
NEB ; RIF1
1.000 0.080 2 151527528 stop gained G/A snv 8.1E-06
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.700 1.000 4 2002 2015
dbSNP: rs760200697
rs760200697
NEB ; RIF1
1.000 0.080 2 151491697 stop gained A/C snv 4.5E-06
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.700 1.000 4 2002 2015
dbSNP: rs1553555882
rs1553555882
NEB ; RIF1
1.000 0.080 2 151498274 frameshift variant -/ATTG delins
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.700 1.000 3 2002 2015
dbSNP: rs748922882
rs748922882
NEB ; RIF1
0.925 0.080 2 151525265 stop gained G/C;T snv 8.0E-06
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.700 1.000 3 2002 2006
dbSNP: rs1344099907
rs1344099907
NEB ; RIF1
0.925 0.080 2 151497028 splice acceptor variant -/AACA;ACA delins
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.700 1.000 2 2014 2015
dbSNP: rs1458048713
rs1458048713
NEB ; RIF1
0.925 0.080 2 151499299 stop gained G/A;T snv 7.3E-06; 3.6E-05
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.700 1.000 2 2014 2016
dbSNP: rs200449517
rs200449517
NEB ; RIF1
1.000 0.080 2 151519656 splice donor variant A/G snv 9.3E-05 9.1E-05
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.700 1.000 2 2014 2017
dbSNP: rs555445835
rs555445835
NEB ; RIF1
0.925 0.080 2 151494212 frameshift variant AG/- del 8.3E-06 1.4E-05
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.700 1.000 2 2014 2015
dbSNP: rs747564597
rs747564597
NEB ; RIF1
1.000 0.080 2 151497656 frameshift variant TTTC/-;TTTCTTTC delins 9.7E-06 4.2E-05
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.700 1.000 2 2014 2016
dbSNP: rs748922882
rs748922882
NEB ; RIF1
0.925 0.080 2 151525265 stop gained G/C;T snv 8.0E-06
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.700 1.000 2 2002 2006
dbSNP: rs762133567
rs762133567
NEB ; RIF1
1.000 0.080 2 151496363 splice acceptor variant -/AACA;ACA delins 1.2E-05
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.700 1.000 2 2011 2014
dbSNP: rs763364977
rs763364977
NEB ; RIF1
0.925 0.080 2 151496308 stop gained G/A;T snv 8.1E-06 2.1E-05
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.700 1.000 2 2014 2016
dbSNP: rs934111355
rs934111355
NEB ; RIF1
0.925 0.080 2 151496992 frameshift variant GTAG/- delins 5.0E-06 1.4E-05
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.700 1.000 2 2014 2016
dbSNP: rs10182296
rs10182296
NEB ; RIF1
2 151515219 intron variant G/A snv 0.61
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs10432479
rs10432479
NEB ; RIF1
2 151509261 intron variant T/C snv 0.61
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs112610938
rs112610938
NEB ; RIF1
1.000 0.080 2 151514316 splice donor variant A/G;T snv 4.0E-06
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.700 1.000 1 2014 2014
dbSNP: rs1257495033
rs1257495033
NEB ; RIF1
0.925 0.080 2 151496977 frameshift variant -/ATCT delins 4.9E-06; 4.9E-06 1.4E-05
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.700 1.000 1 2014 2014
dbSNP: rs1257495033
rs1257495033
NEB ; RIF1
0.925 0.080 2 151496977 frameshift variant -/ATCT delins 4.9E-06; 4.9E-06 1.4E-05
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.700 1.000 1 2014 2014
dbSNP: rs1266535163
rs1266535163
NEB ; RIF1
1.000 0.080 2 151498289 frameshift variant CT/- delins
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.700 1.000 1 2014 2014
dbSNP: rs1421095081
rs1421095081
NEB ; RIF1
1.000 0.080 2 151496369 splice acceptor variant C/T snv 4.2E-06
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.700 1.000 1 2016 2016
dbSNP: rs1553548207
rs1553548207
NEB ; RIF1
1.000 0.080 2 151496962 frameshift variant -/TTTG delins
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.700 1.000 1 2014 2014
dbSNP: rs1553603400
rs1553603400
NEB ; RIF1
1.000 0.080 2 151508034 frameshift variant CT/- delins
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.700 1.000 1 2014 2014
dbSNP: rs1553603690
rs1553603690
NEB ; RIF1
1.000 0.080 2 151508078 frameshift variant A/- del
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.700 1.000 1 2014 2014
dbSNP: rs1553642332
rs1553642332
NEB ; RIF1
1.000 0.080 2 151524617 splice acceptor variant C/T snv
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.700 1.000 1 2014 2014