rs372210292
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs372210292(A;A) |
Make rs372210292(A;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 17 |
Position | 50168397 |
Gene | LOC105371818, SGCA |
is a | snp |
is | mentioned by |
dbSNP | rs372210292 |
dbSNP (classic) | rs372210292 |
ClinGen | rs372210292 |
ebi | rs372210292 |
HLI | rs372210292 |
Exac | rs372210292 |
Gnomad | rs372210292 |
Varsome | rs372210292 |
LitVar | rs372210292 |
Map | rs372210292 |
PheGenI | rs372210292 |
Biobank | rs372210292 |
1000 genomes | rs372210292 |
hgdp | rs372210292 |
ensembl | rs372210292 |
geneview | rs372210292 |
scholar | rs372210292 |
rs372210292 | |
pharmgkb | rs372210292 |
gwascentral | rs372210292 |
openSNP | rs372210292 |
23andMe | rs372210292 |
SNPshot | rs372210292 |
SNPdbe | rs372210292 |
MSV3d | rs372210292 |
GWAS Ctlg | rs372210292 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs372210292(A;A) |
Alt | rs372210292(A;A) |
Reference | Rs372210292(G;G) |
Significance | Pathogenic |
Disease | Limb-girdle muscular dystrophy |
Variation | info |
Gene | SGCA |
CLNDBN | Limb-girdle muscular dystrophy, type 2D |
Reversed | 0 |
HGVS | NC_000017.10:g.48245758G>A |
CLNSRC | |
CLNACC | RCV000341255.1, |