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: rs749705939
rs749705939
TTN ; TTN-AS1
0.925 0.160 2 178622768 splice acceptor variant C/T snv 4.5E-06 7.0E-06
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 4 2007 2014
dbSNP: rs794729265
rs794729265
TTN ; TTN-AS1
0.925 0.160 2 178612355 stop gained G/A snv 7.0E-06
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 4 2013 2017
dbSNP: rs869312112
rs869312112
TTN ; TTN-AS1
0.925 0.160 2 178590230 stop gained G/A snv
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 4 2012 2017
dbSNP: rs876658102
rs876658102
TTN ; TTN-AS1
0.925 0.160 2 178528527 splice donor variant C/T snv
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 4 2008 2015
dbSNP: rs995029896
rs995029896
TTN ; TTN-AS1
0.925 0.160 2 178532670 stop gained G/A;C snv 4.0E-06; 2.0E-05
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 4 2008 2015
dbSNP: rs1060500435
rs1060500435
TTN ; TTN-AS1
0.925 0.160 2 178546612 stop gained G/A snv
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 3 2013 2017
dbSNP: rs1260821931
rs1260821931
TTN ; TTN-AS1
0.925 0.160 2 178535729 stop gained C/T snv 7.0E-06
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 3 2008 2014
dbSNP: rs1553488049
rs1553488049
TTN ; TTN-AS1
0.925 0.160 2 178532100 stop gained G/A snv
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 3 2008 2014
dbSNP: rs1553491220
rs1553491220
TTN ; TTN-AS1
0.925 0.160 2 178533097 frameshift variant A/- del
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 3 2008 2014
dbSNP: rs1553491793
rs1553491793
TTN ; TTN-AS1
0.925 0.160 2 178533279 frameshift variant T/- del
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 3 2008 2014
dbSNP: rs1559003939
rs1559003939
TTN ; TTN-AS1
0.925 0.160 2 178531844 stop gained G/T snv
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 3 2008 2014
dbSNP: rs1559031280
rs1559031280
TTN ; TTN-AS1
0.925 0.160 2 178533896 frameshift variant GT/- del
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 3 2008 2014
dbSNP: rs1559050685
rs1559050685
TTN ; TTN-AS1
0.925 0.160 2 178535671 frameshift variant TCT/A delins
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 3 2008 2014
dbSNP: rs1559175090
rs1559175090
TTN ; TTN-AS1
0.925 0.160 2 178548967 frameshift variant AGATCAGT/- delins
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 3 2013 2017
dbSNP: rs374140736
rs374140736
TTN ; TTN-AS1
0.925 0.160 2 178616508 stop gained G/A snv 4.0E-06 1.4E-05
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 3 2011 2015
dbSNP: rs397517735
rs397517735
TTN ; TTN-AS1
0.925 0.160 2 178559309 splice donor variant A/T snv 4.4E-06 4.9E-05
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 3 2012 2015
dbSNP: rs587780488
rs587780488
TTN ; TTN-AS1
0.925 0.160 2 178642237 missense variant C/G;T snv 1.5E-05
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 3 2012 2015
dbSNP: rs72646846
rs72646846
TTN ; TTN-AS1
0.925 0.160 2 178589849 stop gained G/A snv 7.6E-05 6.3E-05
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 3 2012 2015
dbSNP: rs727504531
rs727504531
TTN ; TTN-AS1
0.925 0.160 2 178573463 frameshift variant A/- del
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 3 2012 2015
dbSNP: rs727504851
rs727504851
TTN ; TTN-AS1
0.925 0.160 2 178613159 splice donor variant A/- del 1.6E-05 2.8E-05
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 3 2012 2015
dbSNP: rs727505284
rs727505284
TTN ; TTN-AS1
0.925 0.160 2 178565416 stop gained G/A snv 8.0E-06 1.4E-05
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 3 2015 2016
dbSNP: rs794729279
rs794729279
TTN ; TTN-AS1
0.925 0.160 2 178587684 stop gained G/A snv 4.0E-06
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 3 2013 2017
dbSNP: rs794729305
rs794729305
TTN ; TTN-AS1
0.925 0.160 2 178535388 stop gained G/A snv 7.0E-06
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 3 2008 2014
dbSNP: rs869025545
rs869025545
TTN ; TTN-AS1
0.925 0.160 2 178566448 stop gained G/A snv
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 3 2013 2015
dbSNP: rs869312070
rs869312070
TTN ; TTN-AS1
0.925 0.160 2 178613938 splice acceptor variant C/T snv 4.1E-06
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 3 2013 2015