rs121912438
|
|
C |
0.900 |
CausalMutation |
CLINVAR |
|
|
|
rs121912431
|
|
A |
0.890 |
CausalMutation |
CLINVAR |
|
|
|
rs121912431
|
|
C |
0.890 |
CausalMutation |
CLINVAR |
|
|
|
rs121912443
|
|
G |
0.890 |
CausalMutation |
CLINVAR |
Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.
|
25025039 |
2014 |
rs121912443
|
|
G |
0.890 |
CausalMutation |
CLINVAR |
A common property of amyotrophic lateral sclerosis-associated variants: destabilization of the copper/zinc superoxide dismutase electrostatic loop.
|
19635794 |
2009 |
rs121912443
|
|
G |
0.890 |
CausalMutation |
CLINVAR |
"Hereditary motor neuron disease in a large Norwegian family with a ""H46R"" substitution in the superoxide dismutase 1 gene."
|
22475618 |
2012 |
rs121912443
|
|
G |
0.890 |
CausalMutation |
CLINVAR |
Unfolding and folding kinetics of amyotrophic lateral sclerosis-associated mutant Cu,Zn superoxide dismutases.
|
18951903 |
2009 |
rs121912443
|
|
G |
0.890 |
CausalMutation |
CLINVAR |
Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes.
|
14506936 |
2003 |
rs121912443
|
|
G |
0.890 |
CausalMutation |
CLINVAR |
Variation in aggregation propensities among ALS-associated variants of SOD1: correlation to human disease.
|
19483195 |
2009 |
rs121912443
|
|
G |
0.890 |
CausalMutation |
CLINVAR |
Mild ALS in Japan associated with novel SOD mutation.
|
8298637 |
1993 |
rs121912443
|
|
G |
0.890 |
CausalMutation |
CLINVAR |
Familial amyotrophic lateral sclerosis (ALS) in Japan associated with H46R mutation in Cu/Zn superoxide dismutase gene: a possible new subtype of familial ALS.
|
7836951 |
1994 |
rs121912443
|
|
G |
0.890 |
CausalMutation |
CLINVAR |
Copper(2+) binding to the surface residue cysteine 111 of His46Arg human copper-zinc superoxide dismutase, a familial amyotrophic lateral sclerosis mutant.
|
10889018 |
2000 |
rs121912436
|
|
C |
0.870 |
CausalMutation |
CLINVAR |
|
|
|
rs121912442
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Common denominator of Cu/Zn superoxide dismutase mutants associated with amyotrophic lateral sclerosis: decreased stability of the apo state.
|
12482932 |
2002 |
rs121912442
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Human embryonic stem cell-derived motor neurons expressing SOD1 mutants exhibit typical signs of motor neuron degeneration linked to ALS.
|
19259395 |
2009 |
rs121912442
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Variation in aggregation propensities among ALS-associated variants of SOD1: correlation to human disease.
|
19483195 |
2009 |
rs121912442
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Mutation-dependent polymorphism of Cu,Zn-superoxide dismutase aggregates in the familial form of amyotrophic lateral sclerosis.
|
20404329 |
2010 |
rs121912442
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Superoxide dismutase 1 encoding mutations linked to ALS adopts a spectrum of misfolded states.
|
22094223 |
2011 |
rs121912442
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
ALS-causing SOD1 mutations promote production of copper-deficient misfolded species.
|
21549128 |
2011 |
rs121912442
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis.
|
7951249 |
1994 |
rs121912442
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Structural and biophysical properties of metal-free pathogenic SOD1 mutants A4V and G93A.
|
19800308 |
2009 |
rs121912442
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
SOD1 (A4V)-mediated ALS presenting with lower motor neuron facial diplegia and unilateral vocal cord paralysis.
|
19618436 |
2009 |
rs121912442
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase.
|
8351519 |
1993 |
rs121912442
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Age and founder effect of SOD1 A4V mutation causing ALS.
|
19176896 |
2009 |
rs121912437
|
|
T |
0.820 |
CausalMutation |
CLINVAR |
|
|
|