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: rs1563083759
rs1563083759
TNPO3
0.925 0.120 7 128957260 frameshift variant G/- del
CUI: C0427063
Disease: Shoulder girdle weakness
Shoulder girdle weakness 		0.700 0
dbSNP: rs543860009
rs543860009
TTN ; TTN-AS1
0.742 0.320 2 178589003 stop gained G/A;T snv
CUI: C0427063
Disease: Shoulder girdle weakness
Shoulder girdle weakness 		0.700 0
dbSNP: rs80338800
rs80338800
CAPN3 ; LOC105370794
0.827 0.120 15 42387803 frameshift variant A/- delins
CUI: C0427063
Disease: Shoulder girdle weakness
Shoulder girdle weakness 		0.700 0
dbSNP: rs878854378
rs878854378
TTN ; TTN-AS1
0.742 0.320 2 178533657 inframe deletion GTT/- delins
CUI: C0427063
Disease: Shoulder girdle weakness
Shoulder girdle weakness 		0.700 0