rs141437721
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 3 | Carrier of a Glutaric aciduria type I mutation |
Make rs141437721(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 12897833 |
Gene | GCDH, SYCE2 |
is a | snp |
is | mentioned by |
dbSNP | rs141437721 |
dbSNP (classic) | rs141437721 |
ClinGen | rs141437721 |
ebi | rs141437721 |
HLI | rs141437721 |
Exac | rs141437721 |
Gnomad | rs141437721 |
Varsome | rs141437721 |
LitVar | rs141437721 |
Map | rs141437721 |
PheGenI | rs141437721 |
Biobank | rs141437721 |
1000 genomes | rs141437721 |
hgdp | rs141437721 |
ensembl | rs141437721 |
geneview | rs141437721 |
scholar | rs141437721 |
rs141437721 | |
pharmgkb | rs141437721 |
gwascentral | rs141437721 |
openSNP | rs141437721 |
23andMe | rs141437721 |
SNPshot | rs141437721 |
SNPdbe | rs141437721 |
MSV3d | rs141437721 |
GWAS Ctlg | rs141437721 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs141437721(G;G) |
Alt | rs141437721(G;G) |
Reference | Rs141437721(A;A) |
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.13008647A>G |
CLNSRC | |
CLNACC | RCV000173982.1, RCV000414299.1, |