rs765591205
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs765591205(A;G) |
Make rs765591205(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 3 |
Position | 155118744 |
Gene | MME |
is a | snp |
is | mentioned by |
dbSNP | rs765591205 |
dbSNP (classic) | rs765591205 |
ClinGen | rs765591205 |
ebi | rs765591205 |
HLI | rs765591205 |
Exac | rs765591205 |
Gnomad | rs765591205 |
Varsome | rs765591205 |
LitVar | rs765591205 |
Map | rs765591205 |
PheGenI | rs765591205 |
Biobank | rs765591205 |
1000 genomes | rs765591205 |
hgdp | rs765591205 |
ensembl | rs765591205 |
geneview | rs765591205 |
scholar | rs765591205 |
rs765591205 | |
pharmgkb | rs765591205 |
gwascentral | rs765591205 |
openSNP | rs765591205 |
23andMe | rs765591205 |
SNPshot | rs765591205 |
SNPdbe | rs765591205 |
MSV3d | rs765591205 |
GWAS Ctlg | rs765591205 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs765591205(G;G) |
Alt | rs765591205(G;G) |
Reference | Rs765591205(A;A) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease |
Variation | info |
Gene | MME |
CLNDBN | Charcot-Marie-Tooth disease, axonal, type 2T |
Reversed | 0 |
HGVS | NC_000003.11:g.154836533A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000234912.1, |