rs35142681
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
Make rs35142681(C;T) |
Make rs35142681(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 110687209 |
Gene | MUSK |
is a | snp |
is | mentioned by |
dbSNP | rs35142681 |
dbSNP (classic) | rs35142681 |
ClinGen | rs35142681 |
ebi | rs35142681 |
HLI | rs35142681 |
Exac | rs35142681 |
Gnomad | rs35142681 |
Varsome | rs35142681 |
LitVar | rs35142681 |
Map | rs35142681 |
PheGenI | rs35142681 |
Biobank | rs35142681 |
1000 genomes | rs35142681 |
hgdp | rs35142681 |
ensembl | rs35142681 |
geneview | rs35142681 |
scholar | rs35142681 |
rs35142681 | |
pharmgkb | rs35142681 |
gwascentral | rs35142681 |
openSNP | rs35142681 |
23andMe | rs35142681 |
SNPshot | rs35142681 |
SNPdbe | rs35142681 |
MSV3d | rs35142681 |
GWAS Ctlg | rs35142681 |
GMAF | 0.01331 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs35142681(T;T) |
Alt | rs35142681(T;T) |
Reference | Rs35142681(C;C) |
Significance | Probable-non-pathogenic |
Disease | not specified Congenital Myasthenic Syndrome |
Variation | info |
Gene | MUSK |
CLNDBN | not specified Congenital Myasthenic Syndrome, Recessive |
Reversed | 0 |
HGVS | NC_000009.11:g.113449489C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000117646.2, RCV000278210.1, |