rs587776691
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AG;AG) | 0 | common in clinvar |
(AGT;AGT) | 0 | common in clinvar |
(CT;CT) | 0 | common in clinvar |
Make rs587776691(-;-) |
Make rs587776691(-;CT) |
Reference | GRCh38 38.1/142 |
Chromosome | 17 |
Position | 15260708 |
Gene | PMP22 |
is a | snp |
is | mentioned by |
dbSNP | rs587776691 |
dbSNP (classic) | rs587776691 |
ClinGen | rs587776691 |
ebi | rs587776691 |
HLI | rs587776691 |
Exac | rs587776691 |
Gnomad | rs587776691 |
Varsome | rs587776691 |
LitVar | rs587776691 |
Map | rs587776691 |
PheGenI | rs587776691 |
Biobank | rs587776691 |
1000 genomes | rs587776691 |
hgdp | rs587776691 |
ensembl | rs587776691 |
geneview | rs587776691 |
scholar | rs587776691 |
rs587776691 | |
pharmgkb | rs587776691 |
gwascentral | rs587776691 |
openSNP | rs587776691 |
23andMe | rs587776691 |
SNPshot | rs587776691 |
SNPdbe | rs587776691 |
MSV3d | rs587776691 |
GWAS Ctlg | rs587776691 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs587776691(CT;CT) rs587776691(-;-) |
Alt | Rs587776691(CT;CT) rs587776691(-;-) |
Reference | Rs587776691(AG;AG) |
Significance | Pathogenic |
Disease | Hereditary liability to pressure palsies |
Variation | info |
Gene | PMP22 |
CLNDBN | Hereditary liability to pressure palsies |
Reversed | 1 |
HGVS | NC_000017.10:g.15164025_15164026delCT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000008950.5, |