rs201803986
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs201803986(C;T) |
Make rs201803986(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 10 |
Position | 97584810 |
Gene | HOGA1 |
is a | snp |
is | mentioned by |
dbSNP | rs201803986 |
dbSNP (classic) | rs201803986 |
ClinGen | rs201803986 |
ebi | rs201803986 |
HLI | rs201803986 |
Exac | rs201803986 |
Gnomad | rs201803986 |
Varsome | rs201803986 |
LitVar | rs201803986 |
Map | rs201803986 |
PheGenI | rs201803986 |
Biobank | rs201803986 |
1000 genomes | rs201803986 |
hgdp | rs201803986 |
ensembl | rs201803986 |
geneview | rs201803986 |
scholar | rs201803986 |
rs201803986 | |
pharmgkb | rs201803986 |
gwascentral | rs201803986 |
openSNP | rs201803986 |
23andMe | rs201803986 |
SNPshot | rs201803986 |
SNPdbe | rs201803986 |
MSV3d | rs201803986 |
GWAS Ctlg | rs201803986 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201803986(A;A) rs201803986(T;T) |
Alt | rs201803986(A;A) rs201803986(T;T) |
Reference | Rs201803986(C;C) |
Significance | Pathogenic |
Disease | Primary hyperoxaluria Primary hyperoxaluria |
Variation | info |
Gene | HOGA1 |
CLNDBN | Primary hyperoxaluria, type III Primary hyperoxaluria |
Reversed | 0 |
HGVS | NC_000010.10:g.99344567C>T |
CLNSRC | |
CLNACC | RCV000186472.1, RCV000290720.1, |