rs1064797154
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CTT;CTT) | 0 | common in clinvar |
Chromosome | 11 |
Position | 22276181 |
Gene | ANO5 |
is a | snp |
is | mentioned by |
dbSNP | rs1064797154 |
dbSNP (classic) | rs1064797154 |
ClinGen | rs1064797154 |
ebi | rs1064797154 |
HLI | rs1064797154 |
Exac | rs1064797154 |
Gnomad | rs1064797154 |
Varsome | rs1064797154 |
LitVar | rs1064797154 |
Map | rs1064797154 |
PheGenI | rs1064797154 |
Biobank | rs1064797154 |
1000 genomes | rs1064797154 |
hgdp | rs1064797154 |
ensembl | rs1064797154 |
geneview | rs1064797154 |
scholar | rs1064797154 |
rs1064797154 | |
pharmgkb | rs1064797154 |
gwascentral | rs1064797154 |
openSNP | rs1064797154 |
23andMe | rs1064797154 |
SNPshot | rs1064797154 |
SNPdbe | rs1064797154 |
MSV3d | rs1064797154 |
GWAS Ctlg | rs1064797154 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1064797154(-;-) |
Alt | rs1064797154(-;-) |
Reference | Rs1064797154(CTT;CTT) |
Significance | Probable-Pathogenic |
Disease | not provided Limb-girdle muscular dystrophy |
Variation | info |
Gene | ANO5 |
CLNDBN | not provided Limb-girdle muscular dystrophy, type 2L |
Reversed | 0 |
HGVS | NC_000011.9:g.22297728_22297730delTTC |
CLNSRC | |
CLNACC | RCV000176243.2, RCV000303709.1, |