rs398122975
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs398122975(A;A) |
Make rs398122975(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 97869140 |
Gene | ASNS |
is a | snp |
is | mentioned by |
dbSNP | rs398122975 |
dbSNP (classic) | rs398122975 |
ClinGen | rs398122975 |
ebi | rs398122975 |
HLI | rs398122975 |
Exac | rs398122975 |
Gnomad | rs398122975 |
Varsome | rs398122975 |
LitVar | rs398122975 |
Map | rs398122975 |
PheGenI | rs398122975 |
Biobank | rs398122975 |
1000 genomes | rs398122975 |
hgdp | rs398122975 |
ensembl | rs398122975 |
geneview | rs398122975 |
scholar | rs398122975 |
rs398122975 | |
pharmgkb | rs398122975 |
gwascentral | rs398122975 |
openSNP | rs398122975 |
23andMe | rs398122975 |
SNPshot | rs398122975 |
SNPdbe | rs398122975 |
MSV3d | rs398122975 |
GWAS Ctlg | rs398122975 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398122975(A;A) rs398122975(T;T) |
Alt | rs398122975(A;A) rs398122975(T;T) |
Reference | Rs398122975(C;C) |
Significance | Pathogenic |
Disease | Asparagine synthetase deficiency not provided |
Variation | info |
Gene | ASNS |
CLNDBN | Asparagine synthetase deficiency not provided |
Reversed | 1 |
HGVS | NC_000007.13:g.97498452G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000077750.4, RCV000414383.1, |