rs119490108
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs119490108(C;T) |
Make rs119490108(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 37426545 |
Gene | GRHPR |
is a | snp |
is | mentioned by |
dbSNP | rs119490108 |
dbSNP (classic) | rs119490108 |
ClinGen | rs119490108 |
ebi | rs119490108 |
HLI | rs119490108 |
Exac | rs119490108 |
Gnomad | rs119490108 |
Varsome | rs119490108 |
LitVar | rs119490108 |
Map | rs119490108 |
PheGenI | rs119490108 |
Biobank | rs119490108 |
1000 genomes | rs119490108 |
hgdp | rs119490108 |
ensembl | rs119490108 |
geneview | rs119490108 |
scholar | rs119490108 |
rs119490108 | |
pharmgkb | rs119490108 |
gwascentral | rs119490108 |
openSNP | rs119490108 |
23andMe | rs119490108 |
SNPshot | rs119490108 |
SNPdbe | rs119490108 |
MSV3d | rs119490108 |
GWAS Ctlg | rs119490108 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs119490108(T;T) |
Alt | rs119490108(T;T) |
Reference | Rs119490108(C;C) |
Significance | Pathogenic |
Disease | Primary hyperoxaluria |
Variation | info |
Gene | GRHPR |
CLNDBN | Primary hyperoxaluria, type II |
Reversed | 0 |
HGVS | NC_000009.11:g.37426542C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005991.4, |