rs863224069
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs863224069(C;T) |
Make rs863224069(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 11996158 |
Gene | MFN2 |
is a | snp |
is | mentioned by |
dbSNP | rs863224069 |
dbSNP (classic) | rs863224069 |
ClinGen | rs863224069 |
ebi | rs863224069 |
HLI | rs863224069 |
Exac | rs863224069 |
Gnomad | rs863224069 |
Varsome | rs863224069 |
LitVar | rs863224069 |
Map | rs863224069 |
PheGenI | rs863224069 |
Biobank | rs863224069 |
1000 genomes | rs863224069 |
hgdp | rs863224069 |
ensembl | rs863224069 |
geneview | rs863224069 |
scholar | rs863224069 |
rs863224069 | |
pharmgkb | rs863224069 |
gwascentral | rs863224069 |
openSNP | rs863224069 |
23andMe | rs863224069 |
SNPshot | rs863224069 |
SNPdbe | rs863224069 |
MSV3d | rs863224069 |
GWAS Ctlg | rs863224069 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863224069(T;T) |
Alt | rs863224069(T;T) |
Reference | Rs863224069(C;C) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease |
Variation | info |
Gene | MFN2 |
CLNDBN | Charcot-Marie-Tooth disease, type 2A2 Charcot-Marie-Tooth disease, type 2 |
Reversed | 0 |
HGVS | NC_000001.10:g.12056215C>T |
CLNSRC | Quest Diagnostics |
CLNACC | RCV000201133.1, RCV000462918.1, |