rs2303607
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common genotype |
Make rs2303607(C;T) |
Make rs2303607(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 71611527 |
Gene | DYSF |
is a | snp |
is | mentioned by |
dbSNP | rs2303607 |
dbSNP (classic) | rs2303607 |
ClinGen | rs2303607 |
ebi | rs2303607 |
HLI | rs2303607 |
Exac | rs2303607 |
Gnomad | rs2303607 |
Varsome | rs2303607 |
LitVar | rs2303607 |
Map | rs2303607 |
PheGenI | rs2303607 |
Biobank | rs2303607 |
1000 genomes | rs2303607 |
hgdp | rs2303607 |
ensembl | rs2303607 |
geneview | rs2303607 |
scholar | rs2303607 |
rs2303607 | |
pharmgkb | rs2303607 |
gwascentral | rs2303607 |
openSNP | rs2303607 |
23andMe | rs2303607 |
SNPshot | rs2303607 |
SNPdbe | rs2303607 |
MSV3d | rs2303607 |
GWAS Ctlg | rs2303607 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs2303607(T;T) |
Alt | rs2303607(T;T) |
Reference | Rs2303607(C;C) |
Significance | Other |
Disease | not specified Limb-Girdle Muscular Dystrophy Miyoshi myopathy |
Variation | info |
Gene | DYSF |
CLNDBN | not specified Limb-Girdle Muscular Dystrophy, Recessive Miyoshi myopathy |
Reversed | 0 |
HGVS | NC_000002.11:g.71838657C>T |
CLNSRC | |
CLNACC | RCV000080284.9, RCV000303528.1, RCV000339768.1, |