Source: BEFREE

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 1 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 1 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 1 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 1 2008 2018
dbSNP: rs80358247
rs80358247
TPM3
0.882 0.080 1 154191993 missense variant A/C snv 4.0E-06
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.710 1.000 1 2002 2002
dbSNP: rs1051226
rs1051226
TPM3
1 154157607 3 prime UTR variant G/A snv
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.010 1.000 1 2019 2019
dbSNP: rs121964852
rs121964852
TPM3
0.851 0.080 1 154172971 missense variant C/T snv
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.010 1.000 1 2008 2008
dbSNP: rs1468885028
rs1468885028
TPM3
1.000 0.080 1 154172960 missense variant T/G snv 4.0E-06
CUI: C3710589
Disease: Cap Myopathy
Cap Myopathy 		0.010 1.000 1 2014 2014
dbSNP: rs199474714
rs199474714
TPM3
0.925 0.080 1 154173113 missense variant C/T snv
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.010 1.000 1 2019 2019
dbSNP: rs199474714
rs199474714
TPM3
0.925 0.080 1 154173113 missense variant C/T snv
CUI: C0030552
Disease: Paresis
Paresis 		0.010 1.000 1 2019 2019
dbSNP: rs199474714
rs199474714
TPM3
0.925 0.080 1 154173113 missense variant C/T snv
CUI: C3710589
Disease: Cap Myopathy
Cap Myopathy 		0.010 1.000 1 2018 2018
dbSNP: rs199474714
rs199474714
TPM3
0.925 0.080 1 154173113 missense variant C/T snv
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.010 1.000 1 2010 2010
dbSNP: rs772816537
rs772816537
TPM3
1.000 0.080 1 154173179 missense variant G/A snv 8.0E-06
CUI: C0030552
Disease: Paresis
Paresis 		0.010 1.000 1 2010 2010
dbSNP: rs772816537
rs772816537
TPM3
1.000 0.080 1 154173179 missense variant G/A snv 8.0E-06
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.010 1.000 1 2010 2010
dbSNP: rs772816537
rs772816537
TPM3
1.000 0.080 1 154173179 missense variant G/A snv 8.0E-06
CUI: C0265213
Disease: Distal arthrogryposis syndrome
Distal arthrogryposis syndrome 		0.010 1.000 1 2010 2010
dbSNP: rs80358247
rs80358247
TPM3
0.882 0.080 1 154191993 missense variant A/C snv 4.0E-06
CUI: C0751656
Disease: Nemaline Myopathy, Autosomal Dominant
Nemaline Myopathy, Autosomal Dominant 		0.010 1.000 1 2002 2002