rs121434591, MATR3

N. diseases: 5
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
AMYOTROPHIC LATERAL SCLEROSIS 21
CUI: C3807521
Disease: AMYOTROPHIC LATERAL SCLEROSIS 21
4 1.000 5 139307669 missense variant C/G snv 0.800 1.000 4 2009 2015
Distal Muscular Dystrophies
CUI: C0751336
Disease: Distal Muscular Dystrophies
18 1.000 5 139307669 missense variant C/G snv 0.020 1.000 2 2014 2017
Deglutition Disorders
CUI: C0011168
Disease: Deglutition Disorders
50 1.000 5 139307669 missense variant C/G snv 0.010 1.000 1 2017 2017
Dysphonia
CUI: C1527344
Disease: Dysphonia
4 1.000 5 139307669 missense variant C/G snv 0.010 1.000 1 2017 2017
Hoarseness
CUI: C0019825
Disease: Hoarseness
3 1.000 5 139307669 missense variant C/G snv 0.010 1.000 1 2017 2017