rs28936698
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(T;T) | 0 |
Make rs28936698(A;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 35577445 |
Gene | PEX12 |
is a | snp |
is | mentioned by |
dbSNP | rs28936698 |
dbSNP (classic) | rs28936698 |
ClinGen | rs28936698 |
ebi | rs28936698 |
HLI | rs28936698 |
Exac | rs28936698 |
Gnomad | rs28936698 |
Varsome | rs28936698 |
LitVar | rs28936698 |
Map | rs28936698 |
PheGenI | rs28936698 |
Biobank | rs28936698 |
1000 genomes | rs28936698 |
hgdp | rs28936698 |
ensembl | rs28936698 |
geneview | rs28936698 |
scholar | rs28936698 |
rs28936698 | |
pharmgkb | rs28936698 |
gwascentral | rs28936698 |
openSNP | rs28936698 |
23andMe | rs28936698 |
SNPshot | rs28936698 |
SNPdbe | rs28936698 |
MSV3d | rs28936698 |
GWAS Ctlg | rs28936698 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs28936698(T;T) |
Alt | Rs28936698(T;T) |
Reference | Rs28936698(A;A) |
Significance | Pathogenic |
Disease | Peroxisomal biogenesis disorder 3b |
Variation | info |
Gene | PEX12 |
CLNDBN | Peroxisomal biogenesis disorder 3b |
Reversed | 1 |
HGVS | NC_000017.10:g.33904464T>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000008220.4, |