rs143777403
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs143777403(A;G) |
Make rs143777403(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 22218262 |
Gene | ANO5 |
is a | snp |
is | mentioned by |
dbSNP | rs143777403 |
dbSNP (classic) | rs143777403 |
ClinGen | rs143777403 |
ebi | rs143777403 |
HLI | rs143777403 |
Exac | rs143777403 |
Gnomad | rs143777403 |
Varsome | rs143777403 |
LitVar | rs143777403 |
Map | rs143777403 |
PheGenI | rs143777403 |
Biobank | rs143777403 |
1000 genomes | rs143777403 |
hgdp | rs143777403 |
ensembl | rs143777403 |
geneview | rs143777403 |
scholar | rs143777403 |
rs143777403 | |
pharmgkb | rs143777403 |
gwascentral | rs143777403 |
openSNP | rs143777403 |
23andMe | rs143777403 |
SNPshot | rs143777403 |
SNPdbe | rs143777403 |
MSV3d | rs143777403 |
GWAS Ctlg | rs143777403 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs143777403(G;G) |
Alt | rs143777403(G;G) |
Reference | Rs143777403(A;A) |
Significance | Probable-Pathogenic |
Disease | not specified Limb-girdle muscular dystrophy Miyoshi muscular dystrophy 3 |
Variation | info |
Gene | ANO5 |
CLNDBN | not specified Limb-girdle muscular dystrophy, type 2L Miyoshi muscular dystrophy 3 |
Reversed | 0 |
HGVS | NC_000011.9:g.22239808A>G |
CLNSRC | |
CLNACC | RCV000178421.3, RCV000200720.1, |