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: rs752697861
rs752697861
TTN ; TTN-AS1
0.925 0.160 2 178534092 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 7 2008 2017
dbSNP: rs553526525
rs553526525
TTN ; TTN-AS1
0.925 0.160 2 178591977 splice donor 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 6 2007 2018
dbSNP: rs1553705079
rs1553705079
TTN ; TTN-AS1
0.925 0.160 2 178615486 splice acceptor variant T/G snv
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 5 2007 2015
dbSNP: rs281864927
rs281864927
TTN ; TTN-AS1
0.882 0.160 2 178527198 missense variant CCATGTTACTT/TTTTTCTTTCA mnv
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 5 2002 2015
dbSNP: rs753334568
rs753334568
TTN ; TTN-AS1
0.882 0.200 2 178546041 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 5 2012 2015
dbSNP: rs753798236
rs753798236
TTN ; TTN-AS1
0.925 0.160 2 178608479 splice acceptor variant T/G snv 2.1E-05
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 5 2007 2015
dbSNP: rs758279518
rs758279518
TTN ; TTN-AS1
0.925 0.160 2 178579938 splice donor variant C/T snv 8.1E-06
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 5 2007 2015
dbSNP: rs1057518195
rs1057518195
TTN ; TTN-AS1
0.925 0.160 2 178535790 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 4 2008 2015
dbSNP: rs112188483
rs112188483
TTN ; TTN-AS1
0.925 0.160 2 178528273 splice donor variant C/G;T snv 1.2E-05
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 4 2008 2015
dbSNP: rs1553712292
rs1553712292
TTN ; TTN-AS1
0.925 0.160 2 178618706 frameshift variant -/T delins
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 4 2012 2015
dbSNP: rs397517689
rs397517689
TTN ; TTN-AS1
0.882 0.160 2 178574530 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 4 2013 2017
dbSNP: rs72648250
rs72648250
TTN ; TTN-AS1
0.882 0.160 2 178548460 stop gained G/A;T snv 4.0E-06; 8.1E-06
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 4 2012 2017
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: rs766265889
rs766265889
TTN ; TTN-AS1
0.827 0.240 2 178535508 stop gained G/A;T snv 8.0E-06; 4.0E-06
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 4 2008 2015
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: rs869320740
rs869320740
TTN ; TTN-AS1
0.851 0.200 2 178546102 missense variant A/G snv 4.1E-06
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 4 2014 2015
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