rs28940294
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs28940294(A;A) |
Make rs28940294(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 12001423 |
Gene | MFN2 |
is a | snp |
is | mentioned by |
dbSNP | rs28940294 |
dbSNP (classic) | rs28940294 |
ClinGen | rs28940294 |
ebi | rs28940294 |
HLI | rs28940294 |
Exac | rs28940294 |
Gnomad | rs28940294 |
Varsome | rs28940294 |
LitVar | rs28940294 |
Map | rs28940294 |
PheGenI | rs28940294 |
Biobank | rs28940294 |
1000 genomes | rs28940294 |
hgdp | rs28940294 |
ensembl | rs28940294 |
geneview | rs28940294 |
scholar | rs28940294 |
rs28940294 | |
pharmgkb | rs28940294 |
gwascentral | rs28940294 |
openSNP | rs28940294 |
23andMe | rs28940294 |
SNPshot | rs28940294 |
SNPdbe | rs28940294 |
MSV3d | rs28940294 |
GWAS Ctlg | rs28940294 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28940294(A;A) |
Alt | rs28940294(A;A) |
Reference | Rs28940294(G;G) |
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.12061480G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000002359.5, RCV000236600.1, |