rs267608183
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs267608183(A;A) |
Make rs267608183(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 2408451 |
Gene | PEX10 |
is a | snp |
is | mentioned by |
dbSNP | rs267608183 |
dbSNP (classic) | rs267608183 |
ClinGen | rs267608183 |
ebi | rs267608183 |
HLI | rs267608183 |
Exac | rs267608183 |
Gnomad | rs267608183 |
Varsome | rs267608183 |
LitVar | rs267608183 |
Map | rs267608183 |
PheGenI | rs267608183 |
Biobank | rs267608183 |
1000 genomes | rs267608183 |
hgdp | rs267608183 |
ensembl | rs267608183 |
geneview | rs267608183 |
scholar | rs267608183 |
rs267608183 | |
pharmgkb | rs267608183 |
gwascentral | rs267608183 |
openSNP | rs267608183 |
23andMe | rs267608183 |
SNPshot | rs267608183 |
SNPdbe | rs267608183 |
MSV3d | rs267608183 |
GWAS Ctlg | rs267608183 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267608183(A;A) |
Alt | rs267608183(A;A) |
Reference | Rs267608183(G;G) |
Significance | Pathogenic |
Disease | Peroxisome biogenesis disorder 6A |
Variation | info |
Gene | PEX10 |
CLNDBN | Peroxisome biogenesis disorder 6A |
Reversed | 1 |
HGVS | NC_000001.10:g.2339890C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007172.3, |