rs587777875
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs587777875(C;T) |
Make rs587777875(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 11999054 |
Gene | MFN2 |
is a | snp |
is | mentioned by |
dbSNP | rs587777875 |
dbSNP (classic) | rs587777875 |
ClinGen | rs587777875 |
ebi | rs587777875 |
HLI | rs587777875 |
Exac | rs587777875 |
Gnomad | rs587777875 |
Varsome | rs587777875 |
LitVar | rs587777875 |
Map | rs587777875 |
PheGenI | rs587777875 |
Biobank | rs587777875 |
1000 genomes | rs587777875 |
hgdp | rs587777875 |
ensembl | rs587777875 |
geneview | rs587777875 |
scholar | rs587777875 |
rs587777875 | |
pharmgkb | rs587777875 |
gwascentral | rs587777875 |
openSNP | rs587777875 |
23andMe | rs587777875 |
SNPshot | rs587777875 |
SNPdbe | rs587777875 |
MSV3d | rs587777875 |
GWAS Ctlg | rs587777875 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777875(T;T) |
Alt | rs587777875(T;T) |
Reference | Rs587777875(C;C) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease not provided |
Variation | info |
Gene | MFN2 |
CLNDBN | Charcot-Marie-Tooth disease, type 2A2 not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.12059111C>T |
CLNSRC | |
CLNACC | RCV000143799.1, RCV000197364.1, |