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: rs121918312
rs121918312
BAG3
0.776 0.160 10 119672373 missense variant C/A;T snv
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.730 1.000 0 2010 2016
dbSNP: rs121908458
rs121908458
MYOT ; LOC101928005
0.882 0.120 5 137870830 missense variant C/G;T snv 3.6E-05
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.710 1.000 0 2012 2012
dbSNP: rs1555631390
rs1555631390
TTR
0.851 0.160 18 31595128 inframe insertion -/AGTCTG delins
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.700 1.000 1 2018 2018
dbSNP: rs104894201
rs104894201
CRYAB
0.763 0.280 11 111908934 missense variant T/C snv
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.700 0
dbSNP: rs121908334
rs121908334
LDB3
0.925 0.080 10 86687218 missense variant C/T snv 4.0E-06
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.700 0
dbSNP: rs267607485
rs267607485
DES
0.925 0.160 2 219425720 missense variant A/C snv
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.700 0
dbSNP: rs281865141
rs281865141
CRYAB ; HSPB2 ; HSPB2-C11orf52
0.925 0.080 11 111911665 frameshift variant G/- delins
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.700 0
dbSNP: rs281865142
rs281865142
CRYAB
0.925 0.080 11 111908949 frameshift variant A/- del 4.0E-06 1.4E-05
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.700 0
dbSNP: rs28937597
rs28937597
MYOT ; LOC101928005
0.925 0.080 5 137870821 missense variant C/T snv
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.700 0
dbSNP: rs41272699
rs41272699
DES
0.925 0.160 2 219420154 missense variant C/T snv 9.2E-03 1.0E-02
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.700 0
dbSNP: rs58898021
rs58898021
DES
0.925 0.160 2 219421385 missense variant G/C snv
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.700 0
dbSNP: rs60538473
rs60538473
DES
0.925 0.160 2 219418977 inframe deletion CGCGCGTCGACGTCGAGCGCG/- delins
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.700 0
dbSNP: rs60798368
rs60798368
DES
0.925 0.160 2 219418508 missense variant C/T snv 7.0E-06
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.700 0
dbSNP: rs775180716
rs775180716
LDB3
1.000 0.080 10 86692544 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.700 0
dbSNP: rs869320701
rs869320701
DNAJB6
0.925 0.080 7 157367408 missense variant T/A;G snv
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.700 0