rs281865062
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs281865062(-;-) |
Make rs281865062(-;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 40396254 |
Gene | PRX |
is a | snp |
is | mentioned by |
dbSNP | rs281865062 |
dbSNP (classic) | rs281865062 |
ClinGen | rs281865062 |
ebi | rs281865062 |
HLI | rs281865062 |
Exac | rs281865062 |
Gnomad | rs281865062 |
Varsome | rs281865062 |
LitVar | rs281865062 |
Map | rs281865062 |
PheGenI | rs281865062 |
Biobank | rs281865062 |
1000 genomes | rs281865062 |
hgdp | rs281865062 |
ensembl | rs281865062 |
geneview | rs281865062 |
scholar | rs281865062 |
rs281865062 | |
pharmgkb | rs281865062 |
gwascentral | rs281865062 |
openSNP | rs281865062 |
23andMe | rs281865062 |
SNPshot | rs281865062 |
SNPdbe | rs281865062 |
MSV3d | rs281865062 |
GWAS Ctlg | rs281865062 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs281865062(-;-) |
Alt | rs281865062(-;-) |
Reference | Rs281865062(G;G) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease |
Variation | info |
Gene | PRX |
CLNDBN | Charcot-Marie-Tooth disease, demyelinating, type 4f |
Reversed | 1 |
HGVS | NC_000019.9:g.40902161delC |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000032003.1, |