rs786205084
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs786205084(A;A) |
Make rs786205084(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 71668842 |
Gene | DYSF |
is a | snp |
is | mentioned by |
dbSNP | rs786205084 |
dbSNP (classic) | rs786205084 |
ClinGen | rs786205084 |
ebi | rs786205084 |
HLI | rs786205084 |
Exac | rs786205084 |
Gnomad | rs786205084 |
Varsome | rs786205084 |
LitVar | rs786205084 |
Map | rs786205084 |
PheGenI | rs786205084 |
Biobank | rs786205084 |
1000 genomes | rs786205084 |
hgdp | rs786205084 |
ensembl | rs786205084 |
geneview | rs786205084 |
scholar | rs786205084 |
rs786205084 | |
pharmgkb | rs786205084 |
gwascentral | rs786205084 |
openSNP | rs786205084 |
23andMe | rs786205084 |
SNPshot | rs786205084 |
SNPdbe | rs786205084 |
MSV3d | rs786205084 |
GWAS Ctlg | rs786205084 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205084(A;A) |
Alt | rs786205084(A;A) |
Reference | Rs786205084(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.71895972G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007073.7, RCV000342102.1, |