Source: UNIPROT

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: rs121964852
rs121964852
TPM3
0.851 0.080 1 154172971 missense variant C/T snv
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.810 1.000 4 2008 2014
dbSNP: rs121964853
rs121964853
TPM3
0.925 0.080 1 154176194 missense variant G/C;T snv
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.810 1.000 4 2008 2015
dbSNP: rs121964854
rs121964854
TPM3
0.882 0.080 1 154172972 missense variant G/A;C snv
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.810 1.000 4 2002 2017
dbSNP: rs199474713
rs199474713
TPM3
1.000 0.080 1 154176220 missense variant C/G snv
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.810 1.000 4 2008 2018
dbSNP: rs121908188
rs121908188
SELENON
0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.810 1.000 1 2002 2013
dbSNP: rs199474711
rs199474711
TPM3
1.000 0.080 1 154192008 missense variant G/A snv
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.800 1.000 4 2008 2014
dbSNP: rs199474715
rs199474715
TPM3
1.000 0.080 1 154172969 missense variant T/C snv
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.800 1.000 4 2008 2014
dbSNP: rs199474717
rs199474717
TPM3
1.000 0.080 1 154170454 missense variant C/T snv
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.800 1.000 4 2008 2014
dbSNP: rs199474718
rs199474718
TPM3
1.000 0.080 1 154170442 missense variant T/C snv
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.800 1.000 4 2008 2014
dbSNP: rs121909529
rs121909529
ACTA1
1.000 0.080 1 229431830 missense variant T/A snv
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.800 1.000 2 2004 2007
dbSNP: rs121909530
rs121909530
ACTA1
1.000 0.080 1 229432134 missense variant A/G snv
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.800 1.000 2 2004 2007
dbSNP: rs121909531
rs121909531
ACTA1
1.000 0.080 1 229431633 missense variant G/A snv
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.800 1.000 2 2004 2007
dbSNP: rs199474716
rs199474716
TPM3
1.000 0.080 1 154172953 missense variant T/G snv
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.700 1.000 4 2008 2014