rs376371866
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs376371866(C;T) |
Make rs376371866(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 9 |
Position | 130476878 |
Gene | ASS1 |
is a | snp |
is | mentioned by |
dbSNP | rs376371866 |
dbSNP (classic) | rs376371866 |
ClinGen | rs376371866 |
ebi | rs376371866 |
HLI | rs376371866 |
Exac | rs376371866 |
Gnomad | rs376371866 |
Varsome | rs376371866 |
LitVar | rs376371866 |
Map | rs376371866 |
PheGenI | rs376371866 |
Biobank | rs376371866 |
1000 genomes | rs376371866 |
hgdp | rs376371866 |
ensembl | rs376371866 |
geneview | rs376371866 |
scholar | rs376371866 |
rs376371866 | |
pharmgkb | rs376371866 |
gwascentral | rs376371866 |
openSNP | rs376371866 |
23andMe | rs376371866 |
SNPshot | rs376371866 |
SNPdbe | rs376371866 |
MSV3d | rs376371866 |
GWAS Ctlg | rs376371866 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs376371866(A;A) rs376371866(T;T) |
Alt | rs376371866(A;A) rs376371866(T;T) |
Reference | Rs376371866(C;C) |
Significance | Pathogenic |
Disease | not specified |
Variation | info |
Gene | ASS1 |
CLNDBN | not specified |
Reversed | 0 |
HGVS | NC_000009.11:g.133352265C>A |
CLNSRC | HGMD UniProtKB (protein) |
CLNACC | RCV000259040.1, |