rs587777718
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs587777718(C;T) |
Make rs587777718(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 12 |
Position | 57512849 |
Gene | MARS, MIR6758 |
is a | snp |
is | mentioned by |
dbSNP | rs587777718 |
dbSNP (classic) | rs587777718 |
ClinGen | rs587777718 |
ebi | rs587777718 |
HLI | rs587777718 |
Exac | rs587777718 |
Gnomad | rs587777718 |
Varsome | rs587777718 |
LitVar | rs587777718 |
Map | rs587777718 |
PheGenI | rs587777718 |
Biobank | rs587777718 |
1000 genomes | rs587777718 |
hgdp | rs587777718 |
ensembl | rs587777718 |
geneview | rs587777718 |
scholar | rs587777718 |
rs587777718 | |
pharmgkb | rs587777718 |
gwascentral | rs587777718 |
openSNP | rs587777718 |
23andMe | rs587777718 |
SNPshot | rs587777718 |
SNPdbe | rs587777718 |
MSV3d | rs587777718 |
GWAS Ctlg | rs587777718 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777718(T;T) |
Alt | rs587777718(T;T) |
Reference | Rs587777718(C;C) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease not specified |
Variation | info |
Gene | MARS MIR6758 |
CLNDBN | Charcot-Marie-Tooth disease, axonal, type 2u Charcot-Marie-Tooth disease not specified |
Reversed | 0 |
HGVS | NC_000012.11:g.57906632C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000144083.5, RCV000192267.1, RCV000478608.1, |