rs753650776
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs753650776(-;-) |
Make rs753650776(-;A) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 17 |
Position | 50168477 |
Gene | LOC105371818, SGCA |
is a | snp |
is | mentioned by |
dbSNP | rs753650776 |
dbSNP (classic) | rs753650776 |
ClinGen | rs753650776 |
ebi | rs753650776 |
HLI | rs753650776 |
Exac | rs753650776 |
Gnomad | rs753650776 |
Varsome | rs753650776 |
LitVar | rs753650776 |
Map | rs753650776 |
PheGenI | rs753650776 |
Biobank | rs753650776 |
1000 genomes | rs753650776 |
hgdp | rs753650776 |
ensembl | rs753650776 |
geneview | rs753650776 |
scholar | rs753650776 |
rs753650776 | |
pharmgkb | rs753650776 |
gwascentral | rs753650776 |
openSNP | rs753650776 |
23andMe | rs753650776 |
SNPshot | rs753650776 |
SNPdbe | rs753650776 |
MSV3d | rs753650776 |
GWAS Ctlg | rs753650776 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs753650776(-;-) |
Alt | rs753650776(-;-) |
Reference | Rs753650776(A;A) |
Significance | Probable-Pathogenic |
Disease | Limb-girdle muscular dystrophy |
Variation | info |
Gene | SGCA |
CLNDBN | Limb-girdle muscular dystrophy, type 2D |
Reversed | 0 |
HGVS | NC_000017.10:g.48245838delA |
CLNSRC | |
CLNACC | RCV000411266.1, |