rs752745051
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs752745051(G;G) |
Make rs752745051(G;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 3 |
Position | 128055731 |
Gene | SEC61A1 |
is a | snp |
is | mentioned by |
dbSNP | rs752745051 |
dbSNP (classic) | rs752745051 |
ClinGen | rs752745051 |
ebi | rs752745051 |
HLI | rs752745051 |
Exac | rs752745051 |
Gnomad | rs752745051 |
Varsome | rs752745051 |
LitVar | rs752745051 |
Map | rs752745051 |
PheGenI | rs752745051 |
Biobank | rs752745051 |
1000 genomes | rs752745051 |
hgdp | rs752745051 |
ensembl | rs752745051 |
geneview | rs752745051 |
scholar | rs752745051 |
rs752745051 | |
pharmgkb | rs752745051 |
gwascentral | rs752745051 |
openSNP | rs752745051 |
23andMe | rs752745051 |
SNPshot | rs752745051 |
SNPdbe | rs752745051 |
MSV3d | rs752745051 |
GWAS Ctlg | rs752745051 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs752745051(G;G) |
Alt | rs752745051(G;G) |
Reference | Rs752745051(T;T) |
Significance | Pathogenic |
Disease | Hyperuricemic nephropathy |
Variation | info |
Gene | SEC61A1 |
CLNDBN | Hyperuricemic nephropathy, familial juvenile, 4 |
Reversed | 0 |
HGVS | NC_000003.11:g.127774574T>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000239508.1, |