rs121434371
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121434371(A;A) |
Make rs121434371(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 12896934 |
Gene | GCDH |
is a | snp |
is | mentioned by |
dbSNP | rs121434371 |
dbSNP (classic) | rs121434371 |
ClinGen | rs121434371 |
ebi | rs121434371 |
HLI | rs121434371 |
Exac | rs121434371 |
Gnomad | rs121434371 |
Varsome | rs121434371 |
LitVar | rs121434371 |
Map | rs121434371 |
PheGenI | rs121434371 |
Biobank | rs121434371 |
1000 genomes | rs121434371 |
hgdp | rs121434371 |
ensembl | rs121434371 |
geneview | rs121434371 |
scholar | rs121434371 |
rs121434371 | |
pharmgkb | rs121434371 |
gwascentral | rs121434371 |
openSNP | rs121434371 |
23andMe | rs121434371 |
SNPshot | rs121434371 |
SNPdbe | rs121434371 |
MSV3d | rs121434371 |
GWAS Ctlg | rs121434371 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121434371(A;A) rs121434371(T;T) |
Alt | rs121434371(A;A) rs121434371(T;T) |
Reference | Rs121434371(G;G) |
Significance | Pathogenic |
Disease | Glutaric aciduria not provided |
Variation | info |
Gene | GCDH |
CLNDBN | Glutaric aciduria, type 1 not provided |
Reversed | 0 |
HGVS | NC_000019.9:g.13007748G>A |
CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000002164.3, RCV000153311.2, |