rs201322234
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs201322234(A;A) |
Make rs201322234(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 69363563 |
Gene | GFPT1 |
is a | snp |
is | mentioned by |
dbSNP | rs201322234 |
dbSNP (classic) | rs201322234 |
ClinGen | rs201322234 |
ebi | rs201322234 |
HLI | rs201322234 |
Exac | rs201322234 |
Gnomad | rs201322234 |
Varsome | rs201322234 |
LitVar | rs201322234 |
Map | rs201322234 |
PheGenI | rs201322234 |
Biobank | rs201322234 |
1000 genomes | rs201322234 |
hgdp | rs201322234 |
ensembl | rs201322234 |
geneview | rs201322234 |
scholar | rs201322234 |
rs201322234 | |
pharmgkb | rs201322234 |
gwascentral | rs201322234 |
openSNP | rs201322234 |
23andMe | rs201322234 |
SNPshot | rs201322234 |
SNPdbe | rs201322234 |
MSV3d | rs201322234 |
GWAS Ctlg | rs201322234 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201322234(A;A) |
Alt | rs201322234(A;A) |
Reference | Rs201322234(G;G) |
Significance | Pathogenic |
Disease | Congenital myasthenic syndrome with tubular aggregates 1 |
Variation | info |
Gene | GFPT1 |
CLNDBN | Congenital myasthenic syndrome with tubular aggregates 1 |
Reversed | 0 |
HGVS | NC_000002.11:g.69590695G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000022587.28, |