rs45495503
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs45495503(C;T) |
Make rs45495503(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 15 |
Position | 43206339 |
Gene | EPB42 |
is a | snp |
is | mentioned by |
dbSNP | rs45495503 |
dbSNP (classic) | rs45495503 |
ClinGen | rs45495503 |
ebi | rs45495503 |
HLI | rs45495503 |
Exac | rs45495503 |
Gnomad | rs45495503 |
Varsome | rs45495503 |
LitVar | rs45495503 |
Map | rs45495503 |
PheGenI | rs45495503 |
Biobank | rs45495503 |
1000 genomes | rs45495503 |
hgdp | rs45495503 |
ensembl | rs45495503 |
geneview | rs45495503 |
scholar | rs45495503 |
rs45495503 | |
pharmgkb | rs45495503 |
gwascentral | rs45495503 |
openSNP | rs45495503 |
23andMe | rs45495503 |
SNPshot | rs45495503 |
SNPdbe | rs45495503 |
MSV3d | rs45495503 |
GWAS Ctlg | rs45495503 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs45495503(T;T) |
Alt | rs45495503(T;T) |
Reference | Rs45495503(C;C) |
Significance | Pathogenic |
Disease | Spherocytosis type 5 |
Variation | info |
Gene | EPB42 |
CLNDBN | Spherocytosis type 5 |
Reversed | 0 |
HGVS | NC_000015.9:g.43498537C>T |
CLNSRC | ClinVar |
CLNACC | RCV000258852.1, |