rs397515350
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs397515350(A;A) |
Make rs397515350(A;C) |
Reference | GRCh38 38.1/142 |
Chromosome | 10 |
Position | 125816718 |
Gene | UROS |
is a | snp |
is | mentioned by |
dbSNP | rs397515350 |
dbSNP (classic) | rs397515350 |
ClinGen | rs397515350 |
ebi | rs397515350 |
HLI | rs397515350 |
Exac | rs397515350 |
Gnomad | rs397515350 |
Varsome | rs397515350 |
LitVar | rs397515350 |
Map | rs397515350 |
PheGenI | rs397515350 |
Biobank | rs397515350 |
1000 genomes | rs397515350 |
hgdp | rs397515350 |
ensembl | rs397515350 |
geneview | rs397515350 |
scholar | rs397515350 |
rs397515350 | |
pharmgkb | rs397515350 |
gwascentral | rs397515350 |
openSNP | rs397515350 |
23andMe | rs397515350 |
SNPshot | rs397515350 |
SNPdbe | rs397515350 |
MSV3d | rs397515350 |
GWAS Ctlg | rs397515350 |
Max Magnitude | 0 |
[PMID 27569544] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
ClinVar | |
---|---|
Risk | rs397515350(A;A) |
Alt | rs397515350(A;A) |
Reference | Rs397515350(C;C) |
Significance | Pathogenic |
Disease | Congenital erythropoietic porphyria |
Variation | info |
Gene | UROS |
CLNDBN | Congenital erythropoietic porphyria |
Reversed | 1 |
HGVS | NC_000010.10:g.127505287G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003962.5, |