rs786204606
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CA;CA) | 0 | common in clinvar |
Make rs786204606(-;-) |
Make rs786204606(-;CA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 7 |
Position | 92507080 |
Gene | PEX1 |
is a | snp |
is | mentioned by |
dbSNP | rs786204606 |
dbSNP (classic) | rs786204606 |
ClinGen | rs786204606 |
ebi | rs786204606 |
HLI | rs786204606 |
Exac | rs786204606 |
Gnomad | rs786204606 |
Varsome | rs786204606 |
LitVar | rs786204606 |
Map | rs786204606 |
PheGenI | rs786204606 |
Biobank | rs786204606 |
1000 genomes | rs786204606 |
hgdp | rs786204606 |
ensembl | rs786204606 |
geneview | rs786204606 |
scholar | rs786204606 |
rs786204606 | |
pharmgkb | rs786204606 |
gwascentral | rs786204606 |
openSNP | rs786204606 |
23andMe | rs786204606 |
SNPshot | rs786204606 |
SNPdbe | rs786204606 |
MSV3d | rs786204606 |
GWAS Ctlg | rs786204606 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204606(-;-) |
Alt | rs786204606(-;-) |
Reference | Rs786204606(CA;CA) |
Significance | Probable-Pathogenic |
Disease | Zellweger syndrome |
Variation | info |
Gene | PEX1 |
CLNDBN | Zellweger syndrome |
Reversed | 1 |
HGVS | NC_000007.13:g.92136394_92136395delTG |
CLNSRC | |
CLNACC | RCV000169363.1, |