rs138382758
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs138382758(A;A) |
Make rs138382758(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 12004835 |
Gene | MFN2 |
is a | snp |
is | mentioned by |
dbSNP | rs138382758 |
dbSNP (classic) | rs138382758 |
ClinGen | rs138382758 |
ebi | rs138382758 |
HLI | rs138382758 |
Exac | rs138382758 |
Gnomad | rs138382758 |
Varsome | rs138382758 |
LitVar | rs138382758 |
Map | rs138382758 |
PheGenI | rs138382758 |
Biobank | rs138382758 |
1000 genomes | rs138382758 |
hgdp | rs138382758 |
ensembl | rs138382758 |
geneview | rs138382758 |
scholar | rs138382758 |
rs138382758 | |
pharmgkb | rs138382758 |
gwascentral | rs138382758 |
openSNP | rs138382758 |
23andMe | rs138382758 |
SNPshot | rs138382758 |
SNPdbe | rs138382758 |
MSV3d | rs138382758 |
GWAS Ctlg | rs138382758 |
GMAF | 0.002755 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs138382758(A;A) |
Alt | rs138382758(A;A) |
Reference | Rs138382758(G;G) |
Significance | Other |
Disease | Charcot-Marie-Tooth disease not specified Charcot-Marie-Tooth disease Hereditary motor and sensory neuropathy not provided |
Variation | info |
Gene | MFN2 |
CLNDBN | Charcot-Marie-Tooth disease, type 2A2 not specified Charcot-Marie-Tooth disease, type 2 Hereditary motor and sensory neuropathy not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.12064892G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000002372.4, RCV000196650.3, RCV000229623.1, RCV000312138.1, RCV000487518.1, |