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: rs1565930588
rs1565930588
HSPB8
0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del
CUI: C0234182
Disease: Gowers sign
Gowers sign 		0.700 1.000 3 2016 2018
dbSNP: rs1553846331
rs1553846331
DOK7
0.925 0.120 4 3473504 missense variant C/T snv
CUI: C0234182
Disease: Gowers sign
Gowers sign 		0.700 0
dbSNP: rs1556425596
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv
CUI: C0234182
Disease: Gowers sign
Gowers sign 		0.700 0
dbSNP: rs1569518070
rs1569518070
COL6A1
0.752 0.480 21 45989088 inframe deletion AAC/- del
CUI: C0234182
Disease: Gowers sign
Gowers sign 		0.700 0
dbSNP: rs756015202
rs756015202
DOK7
0.925 0.120 4 3493047 missense variant C/T snv 5.5E-06
CUI: C0234182
Disease: Gowers sign
Gowers sign 		0.700 0
dbSNP: rs781565158
rs781565158
PYROXD1
0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05
CUI: C0234182
Disease: Gowers sign
Gowers sign 		0.700 0
dbSNP: rs886039785
rs886039785
DMD
0.925 0.120 X 31496876 stop gained C/T snv
CUI: C0234182
Disease: Gowers sign
Gowers sign 		0.700 0
dbSNP: rs886041287
rs886041287
TTN ; TTN-AS1
0.882 0.160 2 178535594 frameshift variant -/GT delins
CUI: C0234182
Disease: Gowers sign
Gowers sign 		0.700 0