rs398122973
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;T) | 3 | Carrier of an asparagine synthetase deficiency (ASNSD) mutation |
(T;T) | 0 | common in clinvar |
Make rs398122973(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 97855406 |
Gene | ASNS |
is a | snp |
is | mentioned by |
dbSNP | rs398122973 |
dbSNP (classic) | rs398122973 |
ClinGen | rs398122973 |
ebi | rs398122973 |
HLI | rs398122973 |
Exac | rs398122973 |
Gnomad | rs398122973 |
Varsome | rs398122973 |
LitVar | rs398122973 |
Map | rs398122973 |
PheGenI | rs398122973 |
Biobank | rs398122973 |
1000 genomes | rs398122973 |
hgdp | rs398122973 |
ensembl | rs398122973 |
geneview | rs398122973 |
scholar | rs398122973 |
rs398122973 | |
pharmgkb | rs398122973 |
gwascentral | rs398122973 |
openSNP | rs398122973 |
23andMe | rs398122973 |
SNPshot | rs398122973 |
SNPdbe | rs398122973 |
MSV3d | rs398122973 |
GWAS Ctlg | rs398122973 |
Max Magnitude | 3 |
aka c.1084T>G (p.Phe362Val or F362V)
ClinVar | |
---|---|
Risk | rs398122973(G;G) |
Alt | rs398122973(G;G) |
Reference | Rs398122973(T;T) |
Significance | Pathogenic |
Disease | Asparagine synthetase deficiency |
Variation | info |
Gene | ASNS |
CLNDBN | Asparagine synthetase deficiency |
Reversed | 1 |
HGVS | NC_000007.13:g.97484718A>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000077748.2, |