rs13422
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs13422(A;C) |
Make rs13422(C;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 17 |
Position | 15230858 |
Gene | PMP22 |
is a | snp |
is | mentioned by |
dbSNP | rs13422 |
dbSNP (classic) | rs13422 |
ClinGen | rs13422 |
ebi | rs13422 |
HLI | rs13422 |
Exac | rs13422 |
Gnomad | rs13422 |
Varsome | rs13422 |
LitVar | rs13422 |
Map | rs13422 |
PheGenI | rs13422 |
Biobank | rs13422 |
1000 genomes | rs13422 |
hgdp | rs13422 |
ensembl | rs13422 |
geneview | rs13422 |
scholar | rs13422 |
rs13422 | |
pharmgkb | rs13422 |
gwascentral | rs13422 |
openSNP | rs13422 |
23andMe | rs13422 |
SNPshot | rs13422 |
SNPdbe | rs13422 |
MSV3d | rs13422 |
GWAS Ctlg | rs13422 |
Max Magnitude | 0 |
? | (A;A) (A;C) (C;C) | 28 |
---|---|---|
|
[PMID 27623071] SP110 and PMP22 polymorphisms are associated with tuberculosis risk in a Chinese-Tibetan population.
ClinVar | |
---|---|
Risk | rs13422(C;C) |
Alt | rs13422(C;C) |
Reference | Rs13422(A;A) |
Significance | Non-pathogenic |
Disease | Hereditary liability to pressure palsies Charcot-Marie-Tooth |
Variation | info |
Gene | PMP22 |
CLNDBN | Hereditary liability to pressure palsies Charcot-Marie-Tooth, Type 1 |
Reversed | 1 |
HGVS | NC_000017.10:g.15134175T>G |
CLNSRC | |
CLNACC | RCV000330964.1, RCV000355581.1, |