rs886042830
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Chromosome | 11 |
Position | 9781505 |
Gene | LOC105369149, SBF2, SBF2-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs886042830 |
dbSNP (classic) | rs886042830 |
ClinGen | rs886042830 |
ebi | rs886042830 |
HLI | rs886042830 |
Exac | rs886042830 |
Gnomad | rs886042830 |
Varsome | rs886042830 |
LitVar | rs886042830 |
Map | rs886042830 |
PheGenI | rs886042830 |
Biobank | rs886042830 |
1000 genomes | rs886042830 |
hgdp | rs886042830 |
ensembl | rs886042830 |
geneview | rs886042830 |
scholar | rs886042830 |
rs886042830 | |
pharmgkb | rs886042830 |
gwascentral | rs886042830 |
openSNP | rs886042830 |
23andMe | rs886042830 |
SNPshot | rs886042830 |
SNPdbe | rs886042830 |
MSV3d | rs886042830 |
GWAS Ctlg | rs886042830 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886042830(C;C) |
Alt | rs886042830(C;C) |
Reference | Rs886042830(A;A) |
Significance | Probable-Pathogenic |
Disease | Charcot-Marie-Tooth disease |
Variation | info |
Gene | SBF2 SBF2-AS1 |
CLNDBN | Charcot-Marie-Tooth disease, type 4B2 |
Reversed | 0 |
HGVS | NC_000011.9:g.9803052A>C |
CLNSRC | |
CLNACC | RCV000336058.1, |