rs794727350
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CTT;CTT) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
(TTC;TTC) | 0 | common in clinvar |
Make rs794727350(-;-) |
Make rs794727350(-;TTC) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 11 |
Position | 22276182 |
Gene | ANO5 |
is a | snp |
is | mentioned by |
dbSNP | rs794727350 |
dbSNP (classic) | rs794727350 |
ClinGen | rs794727350 |
ebi | rs794727350 |
HLI | rs794727350 |
Exac | rs794727350 |
Gnomad | rs794727350 |
Varsome | rs794727350 |
LitVar | rs794727350 |
Map | rs794727350 |
PheGenI | rs794727350 |
Biobank | rs794727350 |
1000 genomes | rs794727350 |
hgdp | rs794727350 |
ensembl | rs794727350 |
geneview | rs794727350 |
scholar | rs794727350 |
rs794727350 | |
pharmgkb | rs794727350 |
gwascentral | rs794727350 |
openSNP | rs794727350 |
23andMe | rs794727350 |
SNPshot | rs794727350 |
SNPdbe | rs794727350 |
MSV3d | rs794727350 |
GWAS Ctlg | rs794727350 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794727350(-;-) Rs794727350(CTT;CTT) |
Alt | rs794727350(-;-) Rs794727350(CTT;CTT) |
Reference | Rs794727350(TTC;TTC) |
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, |