rs151317754
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs151317754(A;A) |
Make rs151317754(A;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 2 |
Position | 71561945 |
Gene | DYSF |
is a | snp |
is | mentioned by |
dbSNP | rs151317754 |
dbSNP (classic) | rs151317754 |
ClinGen | rs151317754 |
ebi | rs151317754 |
HLI | rs151317754 |
Exac | rs151317754 |
Gnomad | rs151317754 |
Varsome | rs151317754 |
LitVar | rs151317754 |
Map | rs151317754 |
PheGenI | rs151317754 |
Biobank | rs151317754 |
1000 genomes | rs151317754 |
hgdp | rs151317754 |
ensembl | rs151317754 |
geneview | rs151317754 |
scholar | rs151317754 |
rs151317754 | |
pharmgkb | rs151317754 |
gwascentral | rs151317754 |
openSNP | rs151317754 |
23andMe | rs151317754 |
SNPshot | rs151317754 |
SNPdbe | rs151317754 |
MSV3d | rs151317754 |
GWAS Ctlg | rs151317754 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs151317754(A;A) |
Alt | rs151317754(A;A) |
Reference | Rs151317754(G;G) |
Significance | Pathogenic |
Disease | Miyoshi muscular dystrophy 1 Limb-girdle muscular dystrophy |
Variation | info |
Gene | DYSF |
CLNDBN | Miyoshi muscular dystrophy 1 Limb-girdle muscular dystrophy, type 2B |
Reversed | 0 |
HGVS | NC_000002.11:g.71789075G>A |
CLNSRC | |
CLNACC | RCV000261362.2, RCV000349131.2, |