rs779536510
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(D;D) | 0 | common genotype |
Make rs779536510(-;A) |
Make rs779536510(A;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 18874481 |
Gene | ALDH4A1 |
is a | snp |
is | mentioned by |
dbSNP | rs779536510 |
dbSNP (classic) | rs779536510 |
ClinGen | rs779536510 |
ebi | rs779536510 |
HLI | rs779536510 |
Exac | rs779536510 |
Gnomad | rs779536510 |
Varsome | rs779536510 |
LitVar | rs779536510 |
Map | rs779536510 |
PheGenI | rs779536510 |
Biobank | rs779536510 |
1000 genomes | rs779536510 |
hgdp | rs779536510 |
ensembl | rs779536510 |
geneview | rs779536510 |
scholar | rs779536510 |
rs779536510 | |
pharmgkb | rs779536510 |
gwascentral | rs779536510 |
openSNP | rs779536510 |
23andMe | rs779536510 |
SNPshot | rs779536510 |
SNPdbe | rs779536510 |
MSV3d | rs779536510 |
GWAS Ctlg | rs779536510 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs779536510(A;A) |
Alt | rs779536510(A;A) |
Reference | Rs779536510(-;-) |
Significance | Pathogenic |
Disease | Deficiency of pyrroline-5-carboxylate reductase |
Variation | info |
Gene | ALDH4A1 |
CLNDBN | Deficiency of pyrroline-5-carboxylate reductase |
Reversed | 0 |
HGVS | NC_000001.10:g.19200976dupA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000004209.3, |