rs794727697
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GAA;GAA) | 0 | common in clinvar |
Make rs794727697(-;-) |
Make rs794727697(-;GAA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 15 |
Position | 42389054 |
Gene | CAPN3 |
is a | snp |
is | mentioned by |
dbSNP | rs794727697 |
dbSNP (classic) | rs794727697 |
ClinGen | rs794727697 |
ebi | rs794727697 |
HLI | rs794727697 |
Exac | rs794727697 |
Gnomad | rs794727697 |
Varsome | rs794727697 |
LitVar | rs794727697 |
Map | rs794727697 |
PheGenI | rs794727697 |
Biobank | rs794727697 |
1000 genomes | rs794727697 |
hgdp | rs794727697 |
ensembl | rs794727697 |
geneview | rs794727697 |
scholar | rs794727697 |
rs794727697 | |
pharmgkb | rs794727697 |
gwascentral | rs794727697 |
openSNP | rs794727697 |
23andMe | rs794727697 |
SNPshot | rs794727697 |
SNPdbe | rs794727697 |
MSV3d | rs794727697 |
GWAS Ctlg | rs794727697 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794727697(-;-) |
Alt | rs794727697(-;-) |
Reference | Rs794727697(GAA;GAA) |
Significance | Pathogenic |
Disease | Limb-girdle muscular dystrophy not provided |
Variation | info |
Gene | CAPN3 |
CLNDBN | Limb-girdle muscular dystrophy, type 2A not provided |
Reversed | 0 |
HGVS | NC_000015.9:g.42681252_42681254delGAA |
CLNSRC | |
CLNACC | RCV000178708.2, RCV000412949.1, |