rs387906882
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs387906882(A;A) |
Make rs387906882(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 137870668 |
Gene | LOC101928005, MYOT |
is a | snp |
is | mentioned by |
dbSNP | rs387906882 |
dbSNP (classic) | rs387906882 |
ClinGen | rs387906882 |
ebi | rs387906882 |
HLI | rs387906882 |
Exac | rs387906882 |
Gnomad | rs387906882 |
Varsome | rs387906882 |
LitVar | rs387906882 |
Map | rs387906882 |
PheGenI | rs387906882 |
Biobank | rs387906882 |
1000 genomes | rs387906882 |
hgdp | rs387906882 |
ensembl | rs387906882 |
geneview | rs387906882 |
scholar | rs387906882 |
rs387906882 | |
pharmgkb | rs387906882 |
gwascentral | rs387906882 |
openSNP | rs387906882 |
23andMe | rs387906882 |
SNPshot | rs387906882 |
SNPdbe | rs387906882 |
MSV3d | rs387906882 |
GWAS Ctlg | rs387906882 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906882(A;A) |
Alt | rs387906882(A;A) |
Reference | Rs387906882(G;G) |
Significance | Pathogenic |
Disease | Limb-girdle muscular dystrophy |
Variation | info |
Gene | MYOT LOC101928005 |
CLNDBN | Limb-girdle muscular dystrophy, type 1A |
Reversed | 0 |
HGVS | NC_000005.9:g.137206357G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000023360.3, |