rs863225027
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;T) | 6.1 | Charcot-Marie-Tooth Disease, type 1 |
(T;T) | 0 | common in clinvar |
Make rs863225027(A;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 15239555 |
Gene | PMP22 |
is a | snp |
is | mentioned by |
dbSNP | rs863225027 |
dbSNP (classic) | rs863225027 |
ClinGen | rs863225027 |
ebi | rs863225027 |
HLI | rs863225027 |
Exac | rs863225027 |
Gnomad | rs863225027 |
Varsome | rs863225027 |
LitVar | rs863225027 |
Map | rs863225027 |
PheGenI | rs863225027 |
Biobank | rs863225027 |
1000 genomes | rs863225027 |
hgdp | rs863225027 |
ensembl | rs863225027 |
geneview | rs863225027 |
scholar | rs863225027 |
rs863225027 | |
pharmgkb | rs863225027 |
gwascentral | rs863225027 |
openSNP | rs863225027 |
23andMe | rs863225027 |
SNPshot | rs863225027 |
SNPdbe | rs863225027 |
MSV3d | rs863225027 |
GWAS Ctlg | rs863225027 |
Max Magnitude | 6.1 |
ClinVar | |
---|---|
Risk | rs863225027(A;A) |
Alt | rs863225027(A;A) |
Reference | Rs863225027(T;T) |
Significance | Probable-Pathogenic |
Disease | Charcot-Marie-Tooth disease |
Variation | info |
Gene | PMP22 |
CLNDBN | Charcot-Marie-Tooth disease, type IA |
Reversed | 1 |
HGVS | NC_000017.10:g.15142872A>T |
CLNSRC | Quest Diagnostics |
CLNACC | RCV000201185.1, |