rs121908964
From SNPedia
Merged into | rs121908963 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121908964(G;T) |
Make rs121908964(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 71517028 |
Gene | DYSF |
is a | snp |
is | mentioned by |
dbSNP | rs121908964 |
dbSNP (classic) | rs121908964 |
ClinGen | rs121908964 |
ebi | rs121908964 |
HLI | rs121908964 |
Exac | rs121908964 |
Gnomad | rs121908964 |
Varsome | rs121908964 |
LitVar | rs121908964 |
Map | rs121908964 |
PheGenI | rs121908964 |
Biobank | rs121908964 |
1000 genomes | rs121908964 |
hgdp | rs121908964 |
ensembl | rs121908964 |
geneview | rs121908964 |
scholar | rs121908964 |
rs121908964 | |
pharmgkb | rs121908964 |
gwascentral | rs121908964 |
openSNP | rs121908964 |
23andMe | rs121908964 |
SNPshot | rs121908964 |
SNPdbe | rs121908964 |
MSV3d | rs121908964 |
GWAS Ctlg | rs121908964 |
Status | Merged into rs121908963 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908964(T;T) |
Alt | rs121908964(T;T) |
Reference | Rs121908964(G;G) |
Significance | Pathogenic |
Disease | Miyoshi myopathy |
Variation | info |
Gene | DYSF |
CLNDBN | Miyoshi myopathy |
Reversed | 0 |
HGVS | NC_000002.11:g.71744158G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | SCV000027265.1, |