rs772025588
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs772025588(A;C) |
Make rs772025588(C;C) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 10 |
Position | 49614274 |
Gene | CHAT |
is a | snp |
is | mentioned by |
dbSNP | rs772025588 |
dbSNP (classic) | rs772025588 |
ClinGen | rs772025588 |
ebi | rs772025588 |
HLI | rs772025588 |
Exac | rs772025588 |
Gnomad | rs772025588 |
Varsome | rs772025588 |
LitVar | rs772025588 |
Map | rs772025588 |
PheGenI | rs772025588 |
Biobank | rs772025588 |
1000 genomes | rs772025588 |
hgdp | rs772025588 |
ensembl | rs772025588 |
geneview | rs772025588 |
scholar | rs772025588 |
rs772025588 | |
pharmgkb | rs772025588 |
gwascentral | rs772025588 |
openSNP | rs772025588 |
23andMe | rs772025588 |
SNPshot | rs772025588 |
SNPdbe | rs772025588 |
MSV3d | rs772025588 |
GWAS Ctlg | rs772025588 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs772025588(C;C) rs772025588(T;T) |
Alt | rs772025588(C;C) rs772025588(T;T) |
Reference | Rs772025588(A;A) |
Significance | Pathogenic |
Disease | Familial infantile myasthenia |
Variation | info |
Gene | CHAT |
CLNDBN | Familial infantile myasthenia |
Reversed | 0 |
HGVS | NC_000010.10:g.50822320A>T |
CLNSRC | |
CLNACC | RCV000303776.1, |