rs267608180
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs267608180(C;C) |
Make rs267608180(C;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 7 |
Position | 92494485 |
Gene | GATAD1, PEX1 |
is a | snp |
is | mentioned by |
dbSNP | rs267608180 |
dbSNP (classic) | rs267608180 |
ClinGen | rs267608180 |
ebi | rs267608180 |
HLI | rs267608180 |
Exac | rs267608180 |
Gnomad | rs267608180 |
Varsome | rs267608180 |
LitVar | rs267608180 |
Map | rs267608180 |
PheGenI | rs267608180 |
Biobank | rs267608180 |
1000 genomes | rs267608180 |
hgdp | rs267608180 |
ensembl | rs267608180 |
geneview | rs267608180 |
scholar | rs267608180 |
rs267608180 | |
pharmgkb | rs267608180 |
gwascentral | rs267608180 |
openSNP | rs267608180 |
23andMe | rs267608180 |
SNPshot | rs267608180 |
SNPdbe | rs267608180 |
MSV3d | rs267608180 |
GWAS Ctlg | rs267608180 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267608180(C;C) |
Alt | rs267608180(C;C) |
Reference | Rs267608180(T;T) |
Significance | Probable-Pathogenic |
Disease | Zellweger syndrome |
Variation | info |
Gene | PEX1 |
CLNDBN | Zellweger syndrome |
Reversed | 1 |
HGVS | NC_000007.13:g.92123799A>G |
CLNSRC | |
CLNACC | RCV000169385.1, |