rs371675217
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs371675217(A;A) |
Make rs371675217(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 50167431 |
Gene | LOC105371818, SGCA |
is a | snp |
is | mentioned by |
dbSNP | rs371675217 |
dbSNP (classic) | rs371675217 |
ClinGen | rs371675217 |
ebi | rs371675217 |
HLI | rs371675217 |
Exac | rs371675217 |
Gnomad | rs371675217 |
Varsome | rs371675217 |
LitVar | rs371675217 |
Map | rs371675217 |
PheGenI | rs371675217 |
Biobank | rs371675217 |
1000 genomes | rs371675217 |
hgdp | rs371675217 |
ensembl | rs371675217 |
geneview | rs371675217 |
scholar | rs371675217 |
rs371675217 | |
pharmgkb | rs371675217 |
gwascentral | rs371675217 |
openSNP | rs371675217 |
23andMe | rs371675217 |
SNPshot | rs371675217 |
SNPdbe | rs371675217 |
MSV3d | rs371675217 |
GWAS Ctlg | rs371675217 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs371675217(A;A) |
Alt | rs371675217(A;A) |
Reference | Rs371675217(G;G) |
Significance | Other |
Disease | not provided Limb-girdle muscular dystrophy |
Variation | info |
Gene | SGCA |
CLNDBN | not provided Limb-girdle muscular dystrophy, type 2D |
Reversed | 0 |
HGVS | NC_000017.10:g.48244792G>A |
CLNSRC | HGMD UniProtKB (protein) |
CLNACC | RCV000077936.3, RCV000169164.4, |