rs786204793
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs786204793(A;A) |
Make rs786204793(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 7 |
Position | 56021110 |
Gene | PSPH |
is a | snp |
is | mentioned by |
dbSNP | rs786204793 |
dbSNP (classic) | rs786204793 |
ClinGen | rs786204793 |
ebi | rs786204793 |
HLI | rs786204793 |
Exac | rs786204793 |
Gnomad | rs786204793 |
Varsome | rs786204793 |
LitVar | rs786204793 |
Map | rs786204793 |
PheGenI | rs786204793 |
Biobank | rs786204793 |
1000 genomes | rs786204793 |
hgdp | rs786204793 |
ensembl | rs786204793 |
geneview | rs786204793 |
scholar | rs786204793 |
rs786204793 | |
pharmgkb | rs786204793 |
gwascentral | rs786204793 |
openSNP | rs786204793 |
23andMe | rs786204793 |
SNPshot | rs786204793 |
SNPdbe | rs786204793 |
MSV3d | rs786204793 |
GWAS Ctlg | rs786204793 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204793(A;A) |
Alt | rs786204793(A;A) |
Reference | Rs786204793(G;G) |
Significance | Pathogenic |
Disease | Deficiency of phosphoserine phosphatase |
Variation | info |
Gene | PSPH |
CLNDBN | Deficiency of phosphoserine phosphatase |
Reversed | 1 |
HGVS | NC_000007.13:g.56088803C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000169687.4, |