rs765702241
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs765702241(C;G) |
Make rs765702241(G;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 5 |
Position | 119456323 |
Gene | HSD17B4 |
is a | snp |
is | mentioned by |
dbSNP | rs765702241 |
dbSNP (classic) | rs765702241 |
ClinGen | rs765702241 |
ebi | rs765702241 |
HLI | rs765702241 |
Exac | rs765702241 |
Gnomad | rs765702241 |
Varsome | rs765702241 |
LitVar | rs765702241 |
Map | rs765702241 |
PheGenI | rs765702241 |
Biobank | rs765702241 |
1000 genomes | rs765702241 |
hgdp | rs765702241 |
ensembl | rs765702241 |
geneview | rs765702241 |
scholar | rs765702241 |
rs765702241 | |
pharmgkb | rs765702241 |
gwascentral | rs765702241 |
openSNP | rs765702241 |
23andMe | rs765702241 |
SNPshot | rs765702241 |
SNPdbe | rs765702241 |
MSV3d | rs765702241 |
GWAS Ctlg | rs765702241 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs765702241(G;G) rs765702241(T;T) |
Alt | rs765702241(G;G) rs765702241(T;T) |
Reference | Rs765702241(C;C) |
Significance | Probable-Pathogenic |
Disease | Bifunctional peroxisomal enzyme deficiency |
Variation | info |
Gene | HSD17B4 |
CLNDBN | Bifunctional peroxisomal enzyme deficiency |
Reversed | 0 |
HGVS | NC_000005.9:g.118792018C>T |
CLNSRC | |
CLNACC | RCV000411032.1, |