rs863223335
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs863223335(-;A) |
Make rs863223335(A;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 110668944 |
Gene | MUSK |
is a | snp |
is | mentioned by |
dbSNP | rs863223335 |
dbSNP (classic) | rs863223335 |
ClinGen | rs863223335 |
ebi | rs863223335 |
HLI | rs863223335 |
Exac | rs863223335 |
Gnomad | rs863223335 |
Varsome | rs863223335 |
LitVar | rs863223335 |
Map | rs863223335 |
PheGenI | rs863223335 |
Biobank | rs863223335 |
1000 genomes | rs863223335 |
hgdp | rs863223335 |
ensembl | rs863223335 |
geneview | rs863223335 |
scholar | rs863223335 |
rs863223335 | |
pharmgkb | rs863223335 |
gwascentral | rs863223335 |
openSNP | rs863223335 |
23andMe | rs863223335 |
SNPshot | rs863223335 |
SNPdbe | rs863223335 |
MSV3d | rs863223335 |
GWAS Ctlg | rs863223335 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863223335(A;A) |
Alt | rs863223335(A;A) |
Reference | Rs863223335(-;-) |
Significance | Pathogenic |
Disease | Pena-Shokeir syndrome type I |
Variation | info |
Gene | MUSK |
CLNDBN | Pena-Shokeir syndrome type I |
Reversed | 0 |
HGVS | NC_000009.11:g.113431224dupA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000170587.3, |