rs180177309
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AAGT;AAGT) | 0 | common in clinvar |
Make rs180177309(-;-) |
Make rs180177309(-;AAGT) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 37426653 |
Gene | GRHPR |
is a | snp |
is | mentioned by |
dbSNP | rs180177309 |
dbSNP (classic) | rs180177309 |
ClinGen | rs180177309 |
ebi | rs180177309 |
HLI | rs180177309 |
Exac | rs180177309 |
Gnomad | rs180177309 |
Varsome | rs180177309 |
LitVar | rs180177309 |
Map | rs180177309 |
PheGenI | rs180177309 |
Biobank | rs180177309 |
1000 genomes | rs180177309 |
hgdp | rs180177309 |
ensembl | rs180177309 |
geneview | rs180177309 |
scholar | rs180177309 |
rs180177309 | |
pharmgkb | rs180177309 |
gwascentral | rs180177309 |
openSNP | rs180177309 |
23andMe | rs180177309 |
SNPshot | rs180177309 |
SNPdbe | rs180177309 |
MSV3d | rs180177309 |
GWAS Ctlg | rs180177309 |
Merged from | Rs180177310 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs180177309(-;-) rs180177309(GTAA;GTAA) |
Alt | rs180177309(-;-) rs180177309(GTAA;GTAA) |
Reference | Rs180177309(AAGT;AAGT) |
Significance | Other |
Disease | Primary hyperoxaluria |
Variation | info |
Gene | GRHPR |
CLNDBN | Primary hyperoxaluria, type II |
Reversed | 0 |
HGVS | NC_000009.11:g.37426654_37426657delAAGT |
CLNSRC | |
CLNACC | RCV000186457.2, |
[PMID 14635115] Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2.