rs121434403
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121434403(G;T) |
Make rs121434403(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 95849841 |
Gene | MTMR2 |
is a | snp |
is | mentioned by |
dbSNP | rs121434403 |
dbSNP (classic) | rs121434403 |
ClinGen | rs121434403 |
ebi | rs121434403 |
HLI | rs121434403 |
Exac | rs121434403 |
Gnomad | rs121434403 |
Varsome | rs121434403 |
LitVar | rs121434403 |
Map | rs121434403 |
PheGenI | rs121434403 |
Biobank | rs121434403 |
1000 genomes | rs121434403 |
hgdp | rs121434403 |
ensembl | rs121434403 |
geneview | rs121434403 |
scholar | rs121434403 |
rs121434403 | |
pharmgkb | rs121434403 |
gwascentral | rs121434403 |
openSNP | rs121434403 |
23andMe | rs121434403 |
SNPshot | rs121434403 |
SNPdbe | rs121434403 |
MSV3d | rs121434403 |
GWAS Ctlg | rs121434403 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121434403(T;T) |
Alt | rs121434403(T;T) |
Reference | Rs121434403(G;G) |
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.95583005C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006611.1, |