rs62636503
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6.1 | Charcot-Marie-Tooth Disease, type 1 |
(G;G) | 0 | common in clinvar |
Make rs62636503(A;A) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 8 |
Position | 24953779 |
Gene | MIR6841, NEFL |
is a | snp |
is | mentioned by |
dbSNP | rs62636503 |
dbSNP (classic) | rs62636503 |
ClinGen | rs62636503 |
ebi | rs62636503 |
HLI | rs62636503 |
Exac | rs62636503 |
Gnomad | rs62636503 |
Varsome | rs62636503 |
LitVar | rs62636503 |
Map | rs62636503 |
PheGenI | rs62636503 |
Biobank | rs62636503 |
1000 genomes | rs62636503 |
hgdp | rs62636503 |
ensembl | rs62636503 |
geneview | rs62636503 |
scholar | rs62636503 |
rs62636503 | |
pharmgkb | rs62636503 |
gwascentral | rs62636503 |
openSNP | rs62636503 |
23andMe | rs62636503 |
SNPshot | rs62636503 |
SNPdbe | rs62636503 |
MSV3d | rs62636503 |
GWAS Ctlg | rs62636503 |
Max Magnitude | 6.1 |
ClinVar | |
---|---|
Risk | rs62636503(A;A) |
Alt | rs62636503(A;A) |
Reference | Rs62636503(G;G) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | MIR6841 NEFL |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000008.10:g.24811293C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000057113.2, |