rs952094
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs952094(A;G) |
Make rs952094(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 158614301 |
Gene | SPTA1 |
is a | snp |
is | mentioned by |
dbSNP | rs952094 |
dbSNP (classic) | rs952094 |
ClinGen | rs952094 |
ebi | rs952094 |
HLI | rs952094 |
Exac | rs952094 |
Gnomad | rs952094 |
Varsome | rs952094 |
LitVar | rs952094 |
Map | rs952094 |
PheGenI | rs952094 |
Biobank | rs952094 |
1000 genomes | rs952094 |
hgdp | rs952094 |
ensembl | rs952094 |
geneview | rs952094 |
scholar | rs952094 |
rs952094 | |
pharmgkb | rs952094 |
gwascentral | rs952094 |
openSNP | rs952094 |
23andMe | rs952094 |
SNPshot | rs952094 |
SNPdbe | rs952094 |
MSV3d | rs952094 |
GWAS Ctlg | rs952094 |
GMAF | 0.4504 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs952094(G;G) |
Alt | rs952094(G;G) |
Reference | Rs952094(A;A) |
Significance | Probable-non-pathogenic |
Disease | not specified Hereditary pyropoikilocytosis Elliptocytosis Spherocytosis |
Variation | info |
Gene | SPTA1 |
CLNDBN | not specified Hereditary pyropoikilocytosis Elliptocytosis Spherocytosis, Recessive |
Reversed | 0 |
HGVS | NC_000001.10:g.158584091A>G |
CLNSRC | |
CLNACC | RCV000248352.1, RCV000269117.1, RCV000313584.1, RCV000363626.1, |