rs766016391
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs766016391(A;A) |
Make rs766016391(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 71643988 |
Gene | DYSF |
is a | snp |
is | mentioned by |
dbSNP | rs766016391 |
dbSNP (classic) | rs766016391 |
ClinGen | rs766016391 |
ebi | rs766016391 |
HLI | rs766016391 |
Exac | rs766016391 |
Gnomad | rs766016391 |
Varsome | rs766016391 |
LitVar | rs766016391 |
Map | rs766016391 |
PheGenI | rs766016391 |
Biobank | rs766016391 |
1000 genomes | rs766016391 |
hgdp | rs766016391 |
ensembl | rs766016391 |
geneview | rs766016391 |
scholar | rs766016391 |
rs766016391 | |
pharmgkb | rs766016391 |
gwascentral | rs766016391 |
openSNP | rs766016391 |
23andMe | rs766016391 |
SNPshot | rs766016391 |
SNPdbe | rs766016391 |
MSV3d | rs766016391 |
GWAS Ctlg | rs766016391 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs766016391(A;A) |
Alt | rs766016391(A;A) |
Reference | Rs766016391(G;G) |
Significance | Pathogenic |
Disease | Limb-girdle muscular dystrophy Miyoshi muscular dystrophy 1 |
Variation | info |
Gene | DYSF |
CLNDBN | Limb-girdle muscular dystrophy, type 2B Miyoshi muscular dystrophy 1 |
Reversed | 0 |
HGVS | NC_000002.11:g.71871118G>A |
CLNSRC | |
CLNACC | RCV000178461.1, RCV000398484.1, |