rs199501657
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs199501657(A;G) |
Make rs199501657(G;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 11 |
Position | 22221158 |
Gene | ANO5 |
is a | snp |
is | mentioned by |
dbSNP | rs199501657 |
dbSNP (classic) | rs199501657 |
ClinGen | rs199501657 |
ebi | rs199501657 |
HLI | rs199501657 |
Exac | rs199501657 |
Gnomad | rs199501657 |
Varsome | rs199501657 |
LitVar | rs199501657 |
Map | rs199501657 |
PheGenI | rs199501657 |
Biobank | rs199501657 |
1000 genomes | rs199501657 |
hgdp | rs199501657 |
ensembl | rs199501657 |
geneview | rs199501657 |
scholar | rs199501657 |
rs199501657 | |
pharmgkb | rs199501657 |
gwascentral | rs199501657 |
openSNP | rs199501657 |
23andMe | rs199501657 |
SNPshot | rs199501657 |
SNPdbe | rs199501657 |
MSV3d | rs199501657 |
GWAS Ctlg | rs199501657 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199501657(G;G) |
Alt | rs199501657(G;G) |
Reference | Rs199501657(A;A) |
Significance | Other |
Disease | not provided Miyoshi muscular dystrophy 3 Limb-girdle muscular dystrophy |
Variation | info |
Gene | ANO5 |
CLNDBN | not provided Miyoshi muscular dystrophy 3 Limb-girdle muscular dystrophy, type 2L |
Reversed | 0 |
HGVS | NC_000011.9:g.22242704A>G |
CLNSRC | HGMD |
CLNACC | RCV000082846.4, RCV000292519.1, RCV000386605.1, |