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: rs57965306
rs57965306
DES
0.925 0.160 2 219421365 missense variant G/A;C snv 2.8E-05
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.820 1.000 5 2005 2019
dbSNP: rs267607490
rs267607490
DES
0.925 0.160 2 219425734 missense variant C/T snv
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.810 1.000 9 1998 2017
dbSNP: rs121913004
rs121913004
DES
1.000 0.160 2 219421482 missense variant A/C snv
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.810 1.000 0 1998 2017
dbSNP: rs267607482
rs267607482
DES
1.000 0.160 2 219421340 missense variant A/G snv
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.810 1.000 0 1998 2017
dbSNP: rs121913003
rs121913003
DES
0.882 0.200 2 219421532 missense variant C/T snv
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.800 1.000 8 1998 2017
dbSNP: rs62636495
rs62636495
DES
0.925 0.200 2 219418500 missense variant C/A;T snv
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.800 1.000 8 1998 2017
dbSNP: rs121913005
rs121913005
DES
1.000 0.160 2 219425699 missense variant C/A;T snv 4.5E-06
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.800 1.000 5 1998 2017
dbSNP: rs57496341
rs57496341
DES
1.000 0.160 2 219420943 missense variant T/C;G snv
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.800 1.000 3 1998 2017
dbSNP: rs267607499
rs267607499
DES
0.851 0.160 2 219418809 missense variant A/G;T snv
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.800 1.000 2 1998 2017
dbSNP: rs62635763
rs62635763
DES
1.000 0.160 2 219423787 missense variant C/A;T snv
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.800 1.000 2 1998 2017
dbSNP: rs61368398
rs61368398
DES
1.000 0.160 2 219421380 missense variant G/A;C;T snv 3.2E-05
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.800 1.000 1 2011 2014
dbSNP: rs121913000
rs121913000
DES
1.000 0.160 2 219421394 missense variant G/C snv
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.800 1.000 0 1998 2017
dbSNP: rs121913001
rs121913001
DES
1.000 0.160 2 219421494 missense variant A/G;T snv 1.2E-05
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.800 1.000 0 1998 2017
dbSNP: rs57639980
rs57639980
DES
1.000 0.160 2 219421350 missense variant T/C snv
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.800 1.000 0 1998 2017
dbSNP: rs57955682
rs57955682
DES
1.000 0.160 2 219421470 missense variant T/C snv
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.800 1.000 0 1998 2017
dbSNP: rs57965306
rs57965306
DES
0.925 0.160 2 219421365 missense variant G/A;C snv 2.8E-05
CUI: C1867005
Disease: Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type 		0.800 0
dbSNP: rs59962885
rs59962885
DES
0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.800 1.000 0 2014 2014
dbSNP: rs61130669
rs61130669
DES
0.925 0.160 2 219421511 missense variant G/T snv
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.800 1.000 0 2014 2014
dbSNP: rs59962885
rs59962885
DES
0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.710 1.000 0 2007 2007
dbSNP: rs150974575
rs150974575
DES
1.000 0.160 2 219423817 stop gained C/T snv 1.2E-05
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.700 1.000 9 2000 2013
dbSNP: rs150974575
rs150974575
DES
1.000 0.160 2 219423817 stop gained C/T snv 1.2E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 9 2000 2013
dbSNP: rs150974575
rs150974575
DES
1.000 0.160 2 219423817 stop gained C/T snv 1.2E-05
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.700 1.000 9 2000 2013
dbSNP: rs267607483
rs267607483
DES
1.000 0.160 2 219420349 splice region variant A/G;T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 7 2000 2013
dbSNP: rs267607483
rs267607483
DES
1.000 0.160 2 219420349 splice region variant A/G;T snv
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.700 1.000 7 2000 2013
dbSNP: rs61726467
rs61726467
DES
0.882 0.160 2 219421553 stop gained G/A;T snv
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.700 1.000 6 2007 2016