rs786204638
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CT;CT) | 0 | common in clinvar |
Make rs786204638(-;-) |
Make rs786204638(-;CT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 7 |
Position | 92517603 |
Gene | PEX1 |
is a | snp |
is | mentioned by |
dbSNP | rs786204638 |
dbSNP (classic) | rs786204638 |
ClinGen | rs786204638 |
ebi | rs786204638 |
HLI | rs786204638 |
Exac | rs786204638 |
Gnomad | rs786204638 |
Varsome | rs786204638 |
LitVar | rs786204638 |
Map | rs786204638 |
PheGenI | rs786204638 |
Biobank | rs786204638 |
1000 genomes | rs786204638 |
hgdp | rs786204638 |
ensembl | rs786204638 |
geneview | rs786204638 |
scholar | rs786204638 |
rs786204638 | |
pharmgkb | rs786204638 |
gwascentral | rs786204638 |
openSNP | rs786204638 |
23andMe | rs786204638 |
SNPshot | rs786204638 |
SNPdbe | rs786204638 |
MSV3d | rs786204638 |
GWAS Ctlg | rs786204638 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204638(-;-) |
Alt | rs786204638(-;-) |
Reference | Rs786204638(CT;CT) |
Significance | Probable-Pathogenic |
Disease | Zellweger syndrome |
Variation | info |
Gene | PEX1 |
CLNDBN | Zellweger syndrome |
Reversed | 1 |
HGVS | NC_000007.13:g.92146917_92146918delAG |
CLNSRC | |
CLNACC | RCV000169419.1, |