rs879254011
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs879254011(A;A) |
Make rs879254011(A;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 1 |
Position | 12002034 |
Gene | MFN2 |
is a | snp |
is | mentioned by |
dbSNP | rs879254011 |
dbSNP (classic) | rs879254011 |
ClinGen | rs879254011 |
ebi | rs879254011 |
HLI | rs879254011 |
Exac | rs879254011 |
Gnomad | rs879254011 |
Varsome | rs879254011 |
LitVar | rs879254011 |
Map | rs879254011 |
PheGenI | rs879254011 |
Biobank | rs879254011 |
1000 genomes | rs879254011 |
hgdp | rs879254011 |
ensembl | rs879254011 |
geneview | rs879254011 |
scholar | rs879254011 |
rs879254011 | |
pharmgkb | rs879254011 |
gwascentral | rs879254011 |
openSNP | rs879254011 |
23andMe | rs879254011 |
SNPshot | rs879254011 |
SNPdbe | rs879254011 |
MSV3d | rs879254011 |
GWAS Ctlg | rs879254011 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879254011(A;A) |
Alt | rs879254011(A;A) |
Reference | Rs879254011(G;G) |
Significance | Pathogenic |
Disease | not provided Charcot-Marie-Tooth disease |
Variation | info |
Gene | MFN2 |
CLNDBN | not provided Charcot-Marie-Tooth disease, type 2 |
Reversed | 0 |
HGVS | NC_000001.10:g.12062091G>A |
CLNSRC | |
CLNACC | RCV000235416.1, RCV000463885.1, |