rs3814290
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs3814290(A;A) |
Make rs3814290(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 40396401 |
Gene | PRX |
is a | snp |
is | mentioned by |
dbSNP | rs3814290 |
dbSNP (classic) | rs3814290 |
ClinGen | rs3814290 |
ebi | rs3814290 |
HLI | rs3814290 |
Exac | rs3814290 |
Gnomad | rs3814290 |
Varsome | rs3814290 |
LitVar | rs3814290 |
Map | rs3814290 |
PheGenI | rs3814290 |
Biobank | rs3814290 |
1000 genomes | rs3814290 |
hgdp | rs3814290 |
ensembl | rs3814290 |
geneview | rs3814290 |
scholar | rs3814290 |
rs3814290 | |
pharmgkb | rs3814290 |
gwascentral | rs3814290 |
openSNP | rs3814290 |
23andMe | rs3814290 |
SNPshot | rs3814290 |
SNPdbe | rs3814290 |
MSV3d | rs3814290 |
GWAS Ctlg | rs3814290 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs3814290(A;A) |
Alt | rs3814290(A;A) |
Reference | Rs3814290(G;G) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease not provided |
Variation | info |
Gene | PRX |
CLNDBN | Charcot-Marie-Tooth disease, demyelinating, type 4f not provided |
Reversed | 1 |
HGVS | NC_000019.9:g.40902308C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants) |
CLNACC | RCV000032002.3, RCV000059812.1, |
[PMID 22847150] Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation.