rs2288355
From SNPedia
Orientation | minus |
Stabilized | minus |
Make rs2288355(A;A) |
Make rs2288355(A;T) |
Make rs2288355(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 71568022 |
Gene | DYSF |
is a | snp |
is | mentioned by |
dbSNP | rs2288355 |
dbSNP (classic) | rs2288355 |
ClinGen | rs2288355 |
ebi | rs2288355 |
HLI | rs2288355 |
Exac | rs2288355 |
Gnomad | rs2288355 |
Varsome | rs2288355 |
LitVar | rs2288355 |
Map | rs2288355 |
PheGenI | rs2288355 |
Biobank | rs2288355 |
1000 genomes | rs2288355 |
hgdp | rs2288355 |
ensembl | rs2288355 |
geneview | rs2288355 |
scholar | rs2288355 |
rs2288355 | |
pharmgkb | rs2288355 |
gwascentral | rs2288355 |
openSNP | rs2288355 |
23andMe | rs2288355 |
SNPshot | rs2288355 |
SNPdbe | rs2288355 |
MSV3d | rs2288355 |
GWAS Ctlg | rs2288355 |
Max Magnitude | 0 |
? | (A;A) (A;T) (T;T) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs2288355(A;A) |
Alt | rs2288355(A;A) |
Reference | rs2288355(T;T) |
Significance | Other |
Disease | not specified Limb-Girdle Muscular Dystrophy Miyoshi myopathy |
Variation | info |
Gene | DYSF |
CLNDBN | not specified Limb-Girdle Muscular Dystrophy, Recessive Miyoshi myopathy |
Reversed | 1 |
HGVS | NC_000002.11:g.71795152A>T |
CLNSRC | |
CLNACC | RCV000080254.10, RCV000283608.1, RCV000378035.1, |