rs28937597
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs28937597(C;T) |
Make rs28937597(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 137870821 |
Gene | LOC101928005, MYOT |
is a | snp |
is | mentioned by |
dbSNP | rs28937597 |
dbSNP (classic) | rs28937597 |
ClinGen | rs28937597 |
ebi | rs28937597 |
HLI | rs28937597 |
Exac | rs28937597 |
Gnomad | rs28937597 |
Varsome | rs28937597 |
LitVar | rs28937597 |
Map | rs28937597 |
PheGenI | rs28937597 |
Biobank | rs28937597 |
1000 genomes | rs28937597 |
hgdp | rs28937597 |
ensembl | rs28937597 |
geneview | rs28937597 |
scholar | rs28937597 |
rs28937597 | |
pharmgkb | rs28937597 |
gwascentral | rs28937597 |
openSNP | rs28937597 |
23andMe | rs28937597 |
SNPshot | rs28937597 |
SNPdbe | rs28937597 |
MSV3d | rs28937597 |
GWAS Ctlg | rs28937597 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28937597(T;T) |
Alt | rs28937597(T;T) |
Reference | Rs28937597(C;C) |
Significance | Pathogenic |
Disease | Limb-girdle muscular dystrophy not provided |
Variation | info |
Gene | MYOT LOC101928005 |
CLNDBN | Limb-girdle muscular dystrophy, type 1A not provided |
Reversed | 0 |
HGVS | NC_000005.9:g.137206510C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006190.4, RCV000424803.1, |