rs1057519081
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1057519081(C;C) |
Make rs1057519081(C;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 2 |
Position | 74531106 |
Gene | AUP1, HTRA2 |
is a | snp |
is | mentioned by |
dbSNP | rs1057519081 |
dbSNP (classic) | rs1057519081 |
ClinGen | rs1057519081 |
ebi | rs1057519081 |
HLI | rs1057519081 |
Exac | rs1057519081 |
Gnomad | rs1057519081 |
Varsome | rs1057519081 |
LitVar | rs1057519081 |
Map | rs1057519081 |
PheGenI | rs1057519081 |
Biobank | rs1057519081 |
1000 genomes | rs1057519081 |
hgdp | rs1057519081 |
ensembl | rs1057519081 |
geneview | rs1057519081 |
scholar | rs1057519081 |
rs1057519081 | |
pharmgkb | rs1057519081 |
gwascentral | rs1057519081 |
openSNP | rs1057519081 |
23andMe | rs1057519081 |
SNPshot | rs1057519081 |
SNPdbe | rs1057519081 |
MSV3d | rs1057519081 |
GWAS Ctlg | rs1057519081 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057519081(C;C) |
Alt | rs1057519081(C;C) |
Reference | Rs1057519081(G;G) |
Significance | Pathogenic |
Disease | 3-methylglutaconic aciduria |
Variation | info |
Gene | HTRA2 AUP1 |
CLNDBN | 3-methylglutaconic aciduria, type VIII |
Reversed | 0 |
HGVS | NC_000002.11:g.74758233G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000412614.1, |