rs373747090
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs373747090(A;T) |
Make rs373747090(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 232534290 |
Gene | CHRND |
is a | snp |
is | mentioned by |
dbSNP | rs373747090 |
dbSNP (classic) | rs373747090 |
ClinGen | rs373747090 |
ebi | rs373747090 |
HLI | rs373747090 |
Exac | rs373747090 |
Gnomad | rs373747090 |
Varsome | rs373747090 |
LitVar | rs373747090 |
Map | rs373747090 |
PheGenI | rs373747090 |
Biobank | rs373747090 |
1000 genomes | rs373747090 |
hgdp | rs373747090 |
ensembl | rs373747090 |
geneview | rs373747090 |
scholar | rs373747090 |
rs373747090 | |
pharmgkb | rs373747090 |
gwascentral | rs373747090 |
openSNP | rs373747090 |
23andMe | rs373747090 |
SNPshot | rs373747090 |
SNPdbe | rs373747090 |
MSV3d | rs373747090 |
GWAS Ctlg | rs373747090 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs373747090(T;T) |
Alt | rs373747090(T;T) |
Reference | Rs373747090(A;A) |
Significance | Pathogenic |
Disease | Congenital myasthenic syndrome 1B |
Variation | info |
Gene | CHRND |
CLNDBN | Congenital myasthenic syndrome 1B, fast-channel |
Reversed | 0 |
HGVS | NC_000002.11:g.233399000A>G |
CLNSRC | |
CLNACC | RCV000191950.1, |