rs875989948
From SNPedia
Orientation | plus |
Stabilized | plus |
Make rs875989948(C;C) |
Make rs875989948(C;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 7 |
Position | 66092022 |
Gene | ASL |
is a | snp |
is | mentioned by |
dbSNP | rs875989948 |
dbSNP (classic) | rs875989948 |
ClinGen | rs875989948 |
ebi | rs875989948 |
HLI | rs875989948 |
Exac | rs875989948 |
Gnomad | rs875989948 |
Varsome | rs875989948 |
LitVar | rs875989948 |
Map | rs875989948 |
PheGenI | rs875989948 |
Biobank | rs875989948 |
1000 genomes | rs875989948 |
hgdp | rs875989948 |
ensembl | rs875989948 |
geneview | rs875989948 |
scholar | rs875989948 |
rs875989948 | |
pharmgkb | rs875989948 |
gwascentral | rs875989948 |
openSNP | rs875989948 |
23andMe | rs875989948 |
SNPshot | rs875989948 |
SNPdbe | rs875989948 |
MSV3d | rs875989948 |
GWAS Ctlg | rs875989948 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs875989948(C;C) |
Alt | rs875989948(C;C) |
Reference | Rs875989948(T;T) |
Significance | Pathogenic |
Disease | Argininosuccinate lyase deficiency |
Variation | info |
Gene | ASL |
CLNDBN | Argininosuccinate lyase deficiency |
Reversed | 0 |
HGVS | NC_000007.13:g.65557009T>C |
CLNSRC | |
CLNACC | RCV000211672.1, |