rs147656110
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs147656110(A;A) |
Make rs147656110(A;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 2 |
Position | 108008651 |
Gene | SLC5A7 |
is a | snp |
is | mentioned by |
dbSNP | rs147656110 |
dbSNP (classic) | rs147656110 |
ClinGen | rs147656110 |
ebi | rs147656110 |
HLI | rs147656110 |
Exac | rs147656110 |
Gnomad | rs147656110 |
Varsome | rs147656110 |
LitVar | rs147656110 |
Map | rs147656110 |
PheGenI | rs147656110 |
Biobank | rs147656110 |
1000 genomes | rs147656110 |
hgdp | rs147656110 |
ensembl | rs147656110 |
geneview | rs147656110 |
scholar | rs147656110 |
rs147656110 | |
pharmgkb | rs147656110 |
gwascentral | rs147656110 |
openSNP | rs147656110 |
23andMe | rs147656110 |
SNPshot | rs147656110 |
SNPdbe | rs147656110 |
MSV3d | rs147656110 |
GWAS Ctlg | rs147656110 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs147656110(A;A) |
Alt | rs147656110(A;A) |
Reference | Rs147656110(G;G) |
Significance | Pathogenic |
Disease | Myasthenic syndrome |
Variation | info |
Gene | SLC5A7 |
CLNDBN | Myasthenic syndrome, congenital, 20, presynaptic |
Reversed | 0 |
HGVS | NC_000002.11:g.108625107G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000256186.1, |