rs377735262
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs377735262(C;T) |
Make rs377735262(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 71551631 |
Gene | DYSF |
is a | snp |
is | mentioned by |
dbSNP | rs377735262 |
dbSNP (classic) | rs377735262 |
ClinGen | rs377735262 |
ebi | rs377735262 |
HLI | rs377735262 |
Exac | rs377735262 |
Gnomad | rs377735262 |
Varsome | rs377735262 |
LitVar | rs377735262 |
Map | rs377735262 |
PheGenI | rs377735262 |
Biobank | rs377735262 |
1000 genomes | rs377735262 |
hgdp | rs377735262 |
ensembl | rs377735262 |
geneview | rs377735262 |
scholar | rs377735262 |
rs377735262 | |
pharmgkb | rs377735262 |
gwascentral | rs377735262 |
openSNP | rs377735262 |
23andMe | rs377735262 |
SNPshot | rs377735262 |
SNPdbe | rs377735262 |
MSV3d | rs377735262 |
GWAS Ctlg | rs377735262 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs377735262(T;T) |
Alt | rs377735262(T;T) |
Reference | Rs377735262(C;C) |
Significance | Pathogenic |
Disease | not provided Limb-girdle muscular dystrophy Miyoshi muscular dystrophy 1 DYSF-Related Disorders |
Variation | info |
Gene | DYSF |
CLNDBN | not provided Limb-girdle muscular dystrophy, type 2B Miyoshi muscular dystrophy 1 DYSF-Related Disorders |
Reversed | 0 |
HGVS | NC_000002.11:g.71778761C>T |
CLNSRC | HGMD UniProtKB (protein) |
CLNACC | RCV000080241.3, RCV000175435.2, RCV000289725.1, RCV000391157.1, |