rs121908959
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121908959(C;T) |
Make rs121908959(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 71674242 |
Gene | DYSF |
is a | snp |
is | mentioned by |
dbSNP | rs121908959 |
dbSNP (classic) | rs121908959 |
ClinGen | rs121908959 |
ebi | rs121908959 |
HLI | rs121908959 |
Exac | rs121908959 |
Gnomad | rs121908959 |
Varsome | rs121908959 |
LitVar | rs121908959 |
Map | rs121908959 |
PheGenI | rs121908959 |
Biobank | rs121908959 |
1000 genomes | rs121908959 |
hgdp | rs121908959 |
ensembl | rs121908959 |
geneview | rs121908959 |
scholar | rs121908959 |
rs121908959 | |
pharmgkb | rs121908959 |
gwascentral | rs121908959 |
openSNP | rs121908959 |
23andMe | rs121908959 |
SNPshot | rs121908959 |
SNPdbe | rs121908959 |
MSV3d | rs121908959 |
GWAS Ctlg | rs121908959 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908959(T;T) |
Alt | rs121908959(T;T) |
Reference | Rs121908959(C;C) |
Significance | Pathogenic |
Disease | Miyoshi muscular dystrophy 1 Myopathy Limb-girdle muscular dystrophy not provided |
Variation | info |
Gene | DYSF |
CLNDBN | Miyoshi muscular dystrophy 1 Myopathy, distal, with anterior tibial onset Limb-girdle muscular dystrophy, type 2B not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.71901372C>T |
CLNSRC | HGMD OMIM Allelic Variant |
CLNACC | RCV000007061.6, RCV000007062.5, RCV000007063.7, RCV000080312.3, |