rs375014127
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs375014127(G;T) |
Make rs375014127(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 11 |
Position | 22262162 |
Gene | ANO5 |
is a | snp |
is | mentioned by |
dbSNP | rs375014127 |
dbSNP (classic) | rs375014127 |
ClinGen | rs375014127 |
ebi | rs375014127 |
HLI | rs375014127 |
Exac | rs375014127 |
Gnomad | rs375014127 |
Varsome | rs375014127 |
LitVar | rs375014127 |
Map | rs375014127 |
PheGenI | rs375014127 |
Biobank | rs375014127 |
1000 genomes | rs375014127 |
hgdp | rs375014127 |
ensembl | rs375014127 |
geneview | rs375014127 |
scholar | rs375014127 |
rs375014127 | |
pharmgkb | rs375014127 |
gwascentral | rs375014127 |
openSNP | rs375014127 |
23andMe | rs375014127 |
SNPshot | rs375014127 |
SNPdbe | rs375014127 |
MSV3d | rs375014127 |
GWAS Ctlg | rs375014127 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs375014127(A;A) rs375014127(T;T) |
Alt | rs375014127(A;A) rs375014127(T;T) |
Reference | Rs375014127(G;G) |
Significance | Probable-Pathogenic |
Disease | not specified Myopathy |
Variation | info |
Gene | ANO5 |
CLNDBN | not specified Myopathy |
Reversed | 0 |
HGVS | NC_000011.9:g.22283708G>T |
CLNSRC | |
CLNACC | RCV000402511.1, RCV000414780.1, |