rs863223304
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs863223304(-;-) |
Make rs863223304(-;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 14 |
Position | 64793751 |
Gene | SPTB |
is a | snp |
is | mentioned by |
dbSNP | rs863223304 |
dbSNP (classic) | rs863223304 |
ClinGen | rs863223304 |
ebi | rs863223304 |
HLI | rs863223304 |
Exac | rs863223304 |
Gnomad | rs863223304 |
Varsome | rs863223304 |
LitVar | rs863223304 |
Map | rs863223304 |
PheGenI | rs863223304 |
Biobank | rs863223304 |
1000 genomes | rs863223304 |
hgdp | rs863223304 |
ensembl | rs863223304 |
geneview | rs863223304 |
scholar | rs863223304 |
rs863223304 | |
pharmgkb | rs863223304 |
gwascentral | rs863223304 |
openSNP | rs863223304 |
23andMe | rs863223304 |
SNPshot | rs863223304 |
SNPdbe | rs863223304 |
MSV3d | rs863223304 |
GWAS Ctlg | rs863223304 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863223304(-;-) |
Alt | rs863223304(-;-) |
Reference | Rs863223304(C;C) |
Significance | Pathogenic |
Disease | Spherocytosis type 2 |
Variation | info |
Gene | SPTB |
CLNDBN | Spherocytosis type 2 |
Reversed | 1 |
HGVS | NC_000014.8:g.65260469delG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000013694.24, |