rs139024319
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs139024319(A;A) |
Make rs139024319(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 4 |
Position | 991150 |
Gene | IDUA, SLC26A1 |
is a | snp |
is | mentioned by |
dbSNP | rs139024319 |
dbSNP (classic) | rs139024319 |
ClinGen | rs139024319 |
ebi | rs139024319 |
HLI | rs139024319 |
Exac | rs139024319 |
Gnomad | rs139024319 |
Varsome | rs139024319 |
LitVar | rs139024319 |
Map | rs139024319 |
PheGenI | rs139024319 |
Biobank | rs139024319 |
1000 genomes | rs139024319 |
hgdp | rs139024319 |
ensembl | rs139024319 |
geneview | rs139024319 |
scholar | rs139024319 |
rs139024319 | |
pharmgkb | rs139024319 |
gwascentral | rs139024319 |
openSNP | rs139024319 |
23andMe | rs139024319 |
SNPshot | rs139024319 |
SNPdbe | rs139024319 |
MSV3d | rs139024319 |
GWAS Ctlg | rs139024319 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs139024319(A;A) |
Alt | rs139024319(A;A) |
Reference | Rs139024319(G;G) |
Significance | Pathogenic |
Disease | Calcium oxalate urolithiasis |
Variation | info |
Gene | SLC26A1 IDUA |
CLNDBN | Calcium oxalate urolithiasis |
Reversed | 0 |
HGVS | NC_000004.11:g.984938G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000234843.2, |