rs863931
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs863931(A;G) |
Make rs863931(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 158642446 |
Gene | SPTA1 |
is a | snp |
is | mentioned by |
dbSNP | rs863931 |
dbSNP (classic) | rs863931 |
ClinGen | rs863931 |
ebi | rs863931 |
HLI | rs863931 |
Exac | rs863931 |
Gnomad | rs863931 |
Varsome | rs863931 |
LitVar | rs863931 |
Map | rs863931 |
PheGenI | rs863931 |
Biobank | rs863931 |
1000 genomes | rs863931 |
hgdp | rs863931 |
ensembl | rs863931 |
geneview | rs863931 |
scholar | rs863931 |
rs863931 | |
pharmgkb | rs863931 |
gwascentral | rs863931 |
openSNP | rs863931 |
23andMe | rs863931 |
SNPshot | rs863931 |
SNPdbe | rs863931 |
MSV3d | rs863931 |
GWAS Ctlg | rs863931 |
Merged from | Rs34131035 |
GMAF | 0.376 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs863931(G;G) rs863931(T;T) |
Alt | rs863931(G;G) rs863931(T;T) |
Reference | Rs863931(A;A) |
Significance | Probable-non-pathogenic |
Disease | not specified Spherocytosis Hereditary pyropoikilocytosis Elliptocytosis |
Variation | info |
Gene | SPTA1 |
CLNDBN | not specified Spherocytosis, Recessive Hereditary pyropoikilocytosis Elliptocytosis |
Reversed | 0 |
HGVS | NC_000001.10:g.158612236A>G |
CLNSRC | |
CLNACC | RCV000244890.1, RCV000288918.1, RCV000325129.1, RCV000383306.1, |