rs879253954
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs879253954(A;A) |
Make rs879253954(A;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 17 |
Position | 15230951 |
Gene | PMP22 |
is a | snp |
is | mentioned by |
dbSNP | rs879253954 |
dbSNP (classic) | rs879253954 |
ClinGen | rs879253954 |
ebi | rs879253954 |
HLI | rs879253954 |
Exac | rs879253954 |
Gnomad | rs879253954 |
Varsome | rs879253954 |
LitVar | rs879253954 |
Map | rs879253954 |
PheGenI | rs879253954 |
Biobank | rs879253954 |
1000 genomes | rs879253954 |
hgdp | rs879253954 |
ensembl | rs879253954 |
geneview | rs879253954 |
scholar | rs879253954 |
rs879253954 | |
pharmgkb | rs879253954 |
gwascentral | rs879253954 |
openSNP | rs879253954 |
23andMe | rs879253954 |
SNPshot | rs879253954 |
SNPdbe | rs879253954 |
MSV3d | rs879253954 |
GWAS Ctlg | rs879253954 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879253954(A;A) |
Alt | rs879253954(A;A) |
Reference | Rs879253954(G;G) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | PMP22 |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000017.10:g.15134268C>T |
CLNSRC | |
CLNACC | RCV000236879.2, |