rs61754634
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs61754634(C;T) |
Make rs61754634(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 34378971 |
Gene | GPI |
is a | snp |
is | mentioned by |
dbSNP | rs61754634 |
dbSNP (classic) | rs61754634 |
ClinGen | rs61754634 |
ebi | rs61754634 |
HLI | rs61754634 |
Exac | rs61754634 |
Gnomad | rs61754634 |
Varsome | rs61754634 |
LitVar | rs61754634 |
Map | rs61754634 |
PheGenI | rs61754634 |
Biobank | rs61754634 |
1000 genomes | rs61754634 |
hgdp | rs61754634 |
ensembl | rs61754634 |
geneview | rs61754634 |
scholar | rs61754634 |
rs61754634 | |
pharmgkb | rs61754634 |
gwascentral | rs61754634 |
openSNP | rs61754634 |
23andMe | rs61754634 |
SNPshot | rs61754634 |
SNPdbe | rs61754634 |
MSV3d | rs61754634 |
GWAS Ctlg | rs61754634 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61754634(T;T) |
Alt | rs61754634(T;T) |
Reference | Rs61754634(C;C) |
Significance | Pathogenic |
Disease | Hemolytic anemia |
Variation | info |
Gene | GPI |
CLNDBN | Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency |
Reversed | 0 |
HGVS | NC_000019.9:g.34869876C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000014613.19, |