rs281865129
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs281865129(-;T) |
Make rs281865129(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 161306164 |
Gene | MPZ |
is a | snp |
is | mentioned by |
dbSNP | rs281865129 |
dbSNP (classic) | rs281865129 |
ClinGen | rs281865129 |
ebi | rs281865129 |
HLI | rs281865129 |
Exac | rs281865129 |
Gnomad | rs281865129 |
Varsome | rs281865129 |
LitVar | rs281865129 |
Map | rs281865129 |
PheGenI | rs281865129 |
Biobank | rs281865129 |
1000 genomes | rs281865129 |
hgdp | rs281865129 |
ensembl | rs281865129 |
geneview | rs281865129 |
scholar | rs281865129 |
rs281865129 | |
pharmgkb | rs281865129 |
gwascentral | rs281865129 |
openSNP | rs281865129 |
23andMe | rs281865129 |
SNPshot | rs281865129 |
SNPdbe | rs281865129 |
MSV3d | rs281865129 |
GWAS Ctlg | rs281865129 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs281865129(T;T) |
Alt | rs281865129(T;T) |
Reference | Rs281865129(-;-) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease |
Variation | info |
Gene | MPZ |
CLNDBN | Charcot-Marie-Tooth disease, demyelinating, type 1b |
Reversed | 1 |
HGVS | NC_000001.10:g.161275955dupA |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000033920.1, |