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: rs121434591
rs121434591
MATR3
1.000 5 139307669 missense variant C/G snv
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		0.020 1.000 2 2014 2017
dbSNP: rs121434591
rs121434591
MATR3
1.000 5 139307669 missense variant C/G snv
CUI: C0019825
Disease: Hoarseness
Hoarseness 		0.010 1.000 1 2017 2017
dbSNP: rs121434591
rs121434591
MATR3
1.000 5 139307669 missense variant C/G snv
CUI: C1527344
Disease: Dysphonia
Dysphonia 		0.010 1.000 1 2017 2017
dbSNP: rs121434591
rs121434591
MATR3
1.000 5 139307669 missense variant C/G snv
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.010 1.000 1 2017 2017