rs863225438
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GTGA;GTGA) | 0 | common in clinvar |
Make rs863225438(-;-) |
Make rs863225438(-;GTGA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 5 |
Position | 119475728 |
Gene | HSD17B4 |
is a | snp |
is | mentioned by |
dbSNP | rs863225438 |
dbSNP (classic) | rs863225438 |
ClinGen | rs863225438 |
ebi | rs863225438 |
HLI | rs863225438 |
Exac | rs863225438 |
Gnomad | rs863225438 |
Varsome | rs863225438 |
LitVar | rs863225438 |
Map | rs863225438 |
PheGenI | rs863225438 |
Biobank | rs863225438 |
1000 genomes | rs863225438 |
hgdp | rs863225438 |
ensembl | rs863225438 |
geneview | rs863225438 |
scholar | rs863225438 |
rs863225438 | |
pharmgkb | rs863225438 |
gwascentral | rs863225438 |
openSNP | rs863225438 |
23andMe | rs863225438 |
SNPshot | rs863225438 |
SNPdbe | rs863225438 |
MSV3d | rs863225438 |
GWAS Ctlg | rs863225438 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863225438(-;-) |
Alt | rs863225438(-;-) |
Reference | Rs863225438(GTGA;GTGA) |
Significance | Pathogenic |
Disease | Bifunctional peroxisomal enzyme deficiency |
Variation | info |
Gene | HSD17B4 |
CLNDBN | Bifunctional peroxisomal enzyme deficiency |
Reversed | 0 |
HGVS | NC_000005.9:g.118811423_118811426delGTGA |
CLNSRC | |
CLNACC | RCV000202368.1, |