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: rs28937900
rs28937900
FKRP
0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		0.730 1.000 22 2001 2018
dbSNP: rs140403642
rs140403642
TRAPPC11
4 183682810 stop gained C/T snv 8.0E-06 4.2E-05
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		0.700 1.000 2 2015 2017
dbSNP: rs1562449164
rs1562449164
LAMA2
1.000 0.120 6 129314653 splice acceptor variant A/C snv
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		0.700 0
dbSNP: rs72677232
rs72677232
TTN ; TTN-AS1
2 178618210 missense variant C/T snv 1.6E-03 2.0E-03
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		0.700 0
dbSNP: rs747685252
rs747685252
TRIM32 ; ASTN2
9 116698433 frameshift variant G/- del 2.4E-05 7.0E-06
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		0.700 0
dbSNP: rs757082154
rs757082154
TTN ; TTN-AS1
1.000 0.120 2 178527491 stop gained G/A snv 1.2E-05
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		0.700 0
dbSNP: rs760768093
rs760768093
TTN ; TTN-AS1
0.882 0.160 2 178533255 frameshift variant C/- delins 2.4E-05 1.4E-05
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		0.700 0