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: rs878854378
rs878854378
TTN ; TTN-AS1
0.742 0.320 2 178533657 inframe deletion GTT/- delins
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 0
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: 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: 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: 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
dbSNP: rs1553627403
rs1553627403
TTN ; TTN-AS1
0.925 0.160 2 178582209 splice acceptor variant C/G snv
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 2 2013 2015
dbSNP: rs1553525592
rs1553525592
TTN ; TTN-AS1
0.925 0.160 2 178547306 splice acceptor variant C/T snv
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 1 2015 2015
dbSNP: rs1553482872
rs1553482872
TTN ; TTN-AS1
1.000 0.120 2 178530118 splice acceptor variant T/C snv
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 0
dbSNP: rs869312099
rs869312099
TTN ; TTN-AS1
0.807 0.200 2 178738361 splice acceptor variant C/T snv 4.1E-06 1.4E-05
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 0
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: 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: 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: 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: rs760768093
rs760768093
TTN ; TTN-AS1
0.882 0.160 2 178533255 frameshift variant C/- delins 2.4E-05 1.4E-05
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 3 2008 2014
dbSNP: rs886044460
rs886044460
TTN ; TTN-AS1
0.925 0.160 2 178530477 frameshift variant -/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: rs1060500589
rs1060500589
TTN ; TTN-AS1
0.925 0.160 2 178533817 frameshift variant ATT/TATA delins
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 2 2013 2014
dbSNP: rs1064792916
rs1064792916
TTN ; TTN-AS1
0.925 0.160 2 178559829 frameshift variant GCCTTGACAATCAA/T delins
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 2 2013 2015
dbSNP: rs1064794472
rs1064794472
TTN ; TTN-AS1
0.925 0.160 2 178553784 frameshift variant -/A ins 7.0E-06
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 2 2013 2015
dbSNP: rs1064796112
rs1064796112
TTN ; TTN-AS1
0.925 0.160 2 178578632 frameshift variant T/- delins
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 2 2013 2015
dbSNP: rs1064796230
rs1064796230
TTN ; TTN-AS1
0.925 0.160 2 178601536 frameshift variant TT/- delins
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 2 2015 2017
dbSNP: rs1389777522
rs1389777522
TTN ; TTN-AS1
0.925 0.160 2 178607429 frameshift variant T/- delins 7.0E-06
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 2 2015 2015
dbSNP: rs1445687820
rs1445687820
TTN ; TTN-AS1
0.925 0.160 2 178538766 frameshift variant T/- delins
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		0.700 1.000 2 2013 2015