rs4280262
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(T;T) | 0 |
Make rs4280262(A;G) |
Make rs4280262(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 11553636 |
Gene | LITAF |
is a | snp |
is | mentioned by |
dbSNP | rs4280262 |
dbSNP (classic) | rs4280262 |
ClinGen | rs4280262 |
ebi | rs4280262 |
HLI | rs4280262 |
Exac | rs4280262 |
Gnomad | rs4280262 |
Varsome | rs4280262 |
LitVar | rs4280262 |
Map | rs4280262 |
PheGenI | rs4280262 |
Biobank | rs4280262 |
1000 genomes | rs4280262 |
hgdp | rs4280262 |
ensembl | rs4280262 |
geneview | rs4280262 |
scholar | rs4280262 |
rs4280262 | |
pharmgkb | rs4280262 |
gwascentral | rs4280262 |
openSNP | rs4280262 |
23andMe | rs4280262 |
SNPshot | rs4280262 |
SNPdbe | rs4280262 |
MSV3d | rs4280262 |
GWAS Ctlg | rs4280262 |
GMAF | 0.129 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
[PMID 19396477] A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?
ClinVar | |
---|---|
Risk | rs4280262(G;G) |
Alt | rs4280262(G;G) |
Reference | Rs4280262(A;A) |
Significance | Non-pathogenic |
Disease | Charcot-Marie-Tooth |
Variation | info |
Gene | LITAF |
CLNDBN | Charcot-Marie-Tooth, Type 1 |
Reversed | 1 |
HGVS | NC_000016.9:g.11647492T>C |
CLNSRC | |
CLNACC | RCV000398802.1, |