rs786205111
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CCATCTACACGG;CCATCTACACGG) | 0 | common in clinvar |
Make rs786205111(-;-) |
Make rs786205111(-;CCATCTACACGG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 15231045 |
Gene | PMP22 |
is a | snp |
is | mentioned by |
dbSNP | rs786205111 |
dbSNP (classic) | rs786205111 |
ClinGen | rs786205111 |
ebi | rs786205111 |
HLI | rs786205111 |
Exac | rs786205111 |
Gnomad | rs786205111 |
Varsome | rs786205111 |
LitVar | rs786205111 |
Map | rs786205111 |
PheGenI | rs786205111 |
Biobank | rs786205111 |
1000 genomes | rs786205111 |
hgdp | rs786205111 |
ensembl | rs786205111 |
geneview | rs786205111 |
scholar | rs786205111 |
rs786205111 | |
pharmgkb | rs786205111 |
gwascentral | rs786205111 |
openSNP | rs786205111 |
23andMe | rs786205111 |
SNPshot | rs786205111 |
SNPdbe | rs786205111 |
MSV3d | rs786205111 |
GWAS Ctlg | rs786205111 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205111(-;-) |
Alt | rs786205111(-;-) |
Reference | Rs786205111(CCATCTACACGG;CCATCTACACGG) |
Significance | Pathogenic |
Disease | Charcot-Marie-Tooth disease and deafness |
Variation | info |
Gene | PMP22 |
CLNDBN | Charcot-Marie-Tooth disease and deafness |
Reversed | 1 |
HGVS | NC_000017.10:g.15134362_15134373delCCGTGTAGATGG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000023073.4, |