rs868484837
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs868484837(-;-) |
Make rs868484837(-;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 11 |
Position | 22218245 |
Gene | ANO5 |
is a | snp |
is | mentioned by |
dbSNP | rs868484837 |
dbSNP (classic) | rs868484837 |
ClinGen | rs868484837 |
ebi | rs868484837 |
HLI | rs868484837 |
Exac | rs868484837 |
Gnomad | rs868484837 |
Varsome | rs868484837 |
LitVar | rs868484837 |
Map | rs868484837 |
PheGenI | rs868484837 |
Biobank | rs868484837 |
1000 genomes | rs868484837 |
hgdp | rs868484837 |
ensembl | rs868484837 |
geneview | rs868484837 |
scholar | rs868484837 |
rs868484837 | |
pharmgkb | rs868484837 |
gwascentral | rs868484837 |
openSNP | rs868484837 |
23andMe | rs868484837 |
SNPshot | rs868484837 |
SNPdbe | rs868484837 |
MSV3d | rs868484837 |
GWAS Ctlg | rs868484837 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs868484837(-;-) |
Alt | rs868484837(-;-) |
Reference | Rs868484837(G;G) |
Significance | Pathogenic |
Disease | Limb-girdle muscular dystrophy not provided |
Variation | info |
Gene | ANO5 |
CLNDBN | Limb-girdle muscular dystrophy, type 2L not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.22239791delG |
CLNSRC | |
CLNACC | RCV000344649.1, RCV000484000.1, |