rs757147440
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs757147440(A;G) |
Make rs757147440(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 158656669 |
Gene | SPTA1 |
is a | snp |
is | mentioned by |
dbSNP | rs757147440 |
dbSNP (classic) | rs757147440 |
ClinGen | rs757147440 |
ebi | rs757147440 |
HLI | rs757147440 |
Exac | rs757147440 |
Gnomad | rs757147440 |
Varsome | rs757147440 |
LitVar | rs757147440 |
Map | rs757147440 |
PheGenI | rs757147440 |
Biobank | rs757147440 |
1000 genomes | rs757147440 |
hgdp | rs757147440 |
ensembl | rs757147440 |
geneview | rs757147440 |
scholar | rs757147440 |
rs757147440 | |
pharmgkb | rs757147440 |
gwascentral | rs757147440 |
openSNP | rs757147440 |
23andMe | rs757147440 |
SNPshot | rs757147440 |
SNPdbe | rs757147440 |
MSV3d | rs757147440 |
GWAS Ctlg | rs757147440 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs757147440(C;C) rs757147440(G;G) |
Alt | rs757147440(C;C) rs757147440(G;G) |
Reference | Rs757147440(A;A) |
Significance | Pathogenic |
Disease | Hereditary pyropoikilocytosis |
Variation | info |
Gene | SPTA1 |
CLNDBN | Hereditary pyropoikilocytosis |
Reversed | 0 |
HGVS | NC_000001.10:g.158626459A>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000013721.18, |