rs755412738
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs755412738(A;A) |
Make rs755412738(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 5 |
Position | 119525916 |
Gene | HSD17B4 |
is a | snp |
is | mentioned by |
dbSNP | rs755412738 |
dbSNP (classic) | rs755412738 |
ClinGen | rs755412738 |
ebi | rs755412738 |
HLI | rs755412738 |
Exac | rs755412738 |
Gnomad | rs755412738 |
Varsome | rs755412738 |
LitVar | rs755412738 |
Map | rs755412738 |
PheGenI | rs755412738 |
Biobank | rs755412738 |
1000 genomes | rs755412738 |
hgdp | rs755412738 |
ensembl | rs755412738 |
geneview | rs755412738 |
scholar | rs755412738 |
rs755412738 | |
pharmgkb | rs755412738 |
gwascentral | rs755412738 |
openSNP | rs755412738 |
23andMe | rs755412738 |
SNPshot | rs755412738 |
SNPdbe | rs755412738 |
MSV3d | rs755412738 |
GWAS Ctlg | rs755412738 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs755412738(A;A) |
Alt | rs755412738(A;A) |
Reference | Rs755412738(G;G) |
Significance | Probable-Pathogenic |
Disease | Bifunctional peroxisomal enzyme deficiency |
Variation | info |
Gene | HSD17B4 |
CLNDBN | Bifunctional peroxisomal enzyme deficiency |
Reversed | 0 |
HGVS | NC_000005.9:g.118861611G>A |
CLNSRC | |
CLNACC | RCV000411356.1, |