rs879253751
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs879253751(C;T) |
Make rs879253751(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 3 |
Position | 155118752 |
Gene | MME |
is a | snp |
is | mentioned by |
dbSNP | rs879253751 |
dbSNP (classic) | rs879253751 |
ClinGen | rs879253751 |
ebi | rs879253751 |
HLI | rs879253751 |
Exac | rs879253751 |
Gnomad | rs879253751 |
Varsome | rs879253751 |
LitVar | rs879253751 |
Map | rs879253751 |
PheGenI | rs879253751 |
Biobank | rs879253751 |
1000 genomes | rs879253751 |
hgdp | rs879253751 |
ensembl | rs879253751 |
geneview | rs879253751 |
scholar | rs879253751 |
rs879253751 | |
pharmgkb | rs879253751 |
gwascentral | rs879253751 |
openSNP | rs879253751 |
23andMe | rs879253751 |
SNPshot | rs879253751 |
SNPdbe | rs879253751 |
MSV3d | rs879253751 |
GWAS Ctlg | rs879253751 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879253751(T;T) |
Alt | rs879253751(T;T) |
Reference | Rs879253751(C;C) |
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.154836541C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000234916.1, |