rs370819630
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs370819630(A;G) |
Make rs370819630(G;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 17 |
Position | 50167731 |
Gene | LOC105371818, SGCA |
is a | snp |
is | mentioned by |
dbSNP | rs370819630 |
dbSNP (classic) | rs370819630 |
ClinGen | rs370819630 |
ebi | rs370819630 |
HLI | rs370819630 |
Exac | rs370819630 |
Gnomad | rs370819630 |
Varsome | rs370819630 |
LitVar | rs370819630 |
Map | rs370819630 |
PheGenI | rs370819630 |
Biobank | rs370819630 |
1000 genomes | rs370819630 |
hgdp | rs370819630 |
ensembl | rs370819630 |
geneview | rs370819630 |
scholar | rs370819630 |
rs370819630 | |
pharmgkb | rs370819630 |
gwascentral | rs370819630 |
openSNP | rs370819630 |
23andMe | rs370819630 |
SNPshot | rs370819630 |
SNPdbe | rs370819630 |
MSV3d | rs370819630 |
GWAS Ctlg | rs370819630 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs370819630(G;G) |
Alt | rs370819630(G;G) |
Reference | Rs370819630(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.48245092A>G |
CLNSRC | |
CLNACC | RCV000277867.1, |