rs863224970
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs863224970(A;G) |
Make rs863224970(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 11997316 |
Gene | MFN2 |
is a | snp |
is | mentioned by |
dbSNP | rs863224970 |
dbSNP (classic) | rs863224970 |
ClinGen | rs863224970 |
ebi | rs863224970 |
HLI | rs863224970 |
Exac | rs863224970 |
Gnomad | rs863224970 |
Varsome | rs863224970 |
LitVar | rs863224970 |
Map | rs863224970 |
PheGenI | rs863224970 |
Biobank | rs863224970 |
1000 genomes | rs863224970 |
hgdp | rs863224970 |
ensembl | rs863224970 |
geneview | rs863224970 |
scholar | rs863224970 |
rs863224970 | |
pharmgkb | rs863224970 |
gwascentral | rs863224970 |
openSNP | rs863224970 |
23andMe | rs863224970 |
SNPshot | rs863224970 |
SNPdbe | rs863224970 |
MSV3d | rs863224970 |
GWAS Ctlg | rs863224970 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863224970(G;G) |
Alt | rs863224970(G;G) |
Reference | Rs863224970(A;A) |
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.12057373A>G |
CLNSRC | Quest Diagnostics |
CLNACC | RCV000201063.1, RCV000235729.1, |