rs1057523690
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs1057523690(-;-) |
Make rs1057523690(-;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 2 |
Position | 44339309 |
Gene | PREPL |
is a | snp |
is | mentioned by |
dbSNP | rs1057523690 |
dbSNP (classic) | rs1057523690 |
ClinGen | rs1057523690 |
ebi | rs1057523690 |
HLI | rs1057523690 |
Exac | rs1057523690 |
Gnomad | rs1057523690 |
Varsome | rs1057523690 |
LitVar | rs1057523690 |
Map | rs1057523690 |
PheGenI | rs1057523690 |
Biobank | rs1057523690 |
1000 genomes | rs1057523690 |
hgdp | rs1057523690 |
ensembl | rs1057523690 |
geneview | rs1057523690 |
scholar | rs1057523690 |
rs1057523690 | |
pharmgkb | rs1057523690 |
gwascentral | rs1057523690 |
openSNP | rs1057523690 |
23andMe | rs1057523690 |
SNPshot | rs1057523690 |
SNPdbe | rs1057523690 |
MSV3d | rs1057523690 |
GWAS Ctlg | rs1057523690 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057523690(-;-) |
Alt | rs1057523690(-;-) |
Reference | Rs1057523690(T;T) |
Significance | Pathogenic |
Disease | Myasthenic syndrome |
Variation | info |
Gene | PREPL |
CLNDBN | Myasthenic syndrome, congenital, 22 |
Reversed | 1 |
HGVS | NC_000002.11:g.44566448delA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000437878.1, |