rs121908955
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121908955(C;T) |
Make rs121908955(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 71682597 |
Gene | DYSF |
is a | snp |
is | mentioned by |
dbSNP | rs121908955 |
dbSNP (classic) | rs121908955 |
ClinGen | rs121908955 |
ebi | rs121908955 |
HLI | rs121908955 |
Exac | rs121908955 |
Gnomad | rs121908955 |
Varsome | rs121908955 |
LitVar | rs121908955 |
Map | rs121908955 |
PheGenI | rs121908955 |
Biobank | rs121908955 |
1000 genomes | rs121908955 |
hgdp | rs121908955 |
ensembl | rs121908955 |
geneview | rs121908955 |
scholar | rs121908955 |
rs121908955 | |
pharmgkb | rs121908955 |
gwascentral | rs121908955 |
openSNP | rs121908955 |
23andMe | rs121908955 |
SNPshot | rs121908955 |
SNPdbe | rs121908955 |
MSV3d | rs121908955 |
GWAS Ctlg | rs121908955 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908955(T;T) |
Alt | rs121908955(T;T) |
Reference | Rs121908955(C;C) |
Significance | Pathogenic |
Disease | Miyoshi muscular dystrophy 1 Limb-girdle muscular dystrophy not provided |
Variation | info |
Gene | DYSF |
CLNDBN | Miyoshi muscular dystrophy 1 Limb-girdle muscular dystrophy, type 2B not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.71909727C>T |
CLNSRC | HGMD OMIM Allelic Variant |
CLNACC | RCV000007051.7, RCV000007052.8, RCV000080320.3, |