rs121434402
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121434402(C;T) |
Make rs121434402(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 95845063 |
Gene | MTMR2 |
is a | snp |
is | mentioned by |
dbSNP | rs121434402 |
dbSNP (classic) | rs121434402 |
ClinGen | rs121434402 |
ebi | rs121434402 |
HLI | rs121434402 |
Exac | rs121434402 |
Gnomad | rs121434402 |
Varsome | rs121434402 |
LitVar | rs121434402 |
Map | rs121434402 |
PheGenI | rs121434402 |
Biobank | rs121434402 |
1000 genomes | rs121434402 |
hgdp | rs121434402 |
ensembl | rs121434402 |
geneview | rs121434402 |
scholar | rs121434402 |
rs121434402 | |
pharmgkb | rs121434402 |
gwascentral | rs121434402 |
openSNP | rs121434402 |
23andMe | rs121434402 |
SNPshot | rs121434402 |
SNPdbe | rs121434402 |
MSV3d | rs121434402 |
GWAS Ctlg | rs121434402 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121434402(T;T) |
Alt | rs121434402(T;T) |
Reference | Rs121434402(C;C) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease |
Variation | info |
Gene | MTMR2 |
CLNDBN | Charcot-Marie-Tooth disease, type 4B1 |
Reversed | 1 |
HGVS | NC_000011.9:g.95578227G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006609.2, |