rs863224516
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs863224516(-;-) |
Make rs863224516(-;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 95847859 |
Gene | MTMR2 |
is a | snp |
is | mentioned by |
dbSNP | rs863224516 |
dbSNP (classic) | rs863224516 |
ClinGen | rs863224516 |
ebi | rs863224516 |
HLI | rs863224516 |
Exac | rs863224516 |
Gnomad | rs863224516 |
Varsome | rs863224516 |
LitVar | rs863224516 |
Map | rs863224516 |
PheGenI | rs863224516 |
Biobank | rs863224516 |
1000 genomes | rs863224516 |
hgdp | rs863224516 |
ensembl | rs863224516 |
geneview | rs863224516 |
scholar | rs863224516 |
rs863224516 | |
pharmgkb | rs863224516 |
gwascentral | rs863224516 |
openSNP | rs863224516 |
23andMe | rs863224516 |
SNPshot | rs863224516 |
SNPdbe | rs863224516 |
MSV3d | rs863224516 |
GWAS Ctlg | rs863224516 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863224516(-;-) |
Alt | rs863224516(-;-) |
Reference | Rs863224516(A;A) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease |
Variation | info |
Gene | MTMR2 |
CLNDBN | Charcot-Marie-Tooth disease, type IV |
Reversed | 1 |
HGVS | NC_000011.9:g.95581023delT |
CLNSRC | |
CLNACC | RCV000197687.1, |