rs754614154
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs754614154(C;C) |
Make rs754614154(C;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 158636763 |
Gene | SPTA1 |
is a | snp |
is | mentioned by |
dbSNP | rs754614154 |
dbSNP (classic) | rs754614154 |
ClinGen | rs754614154 |
ebi | rs754614154 |
HLI | rs754614154 |
Exac | rs754614154 |
Gnomad | rs754614154 |
Varsome | rs754614154 |
LitVar | rs754614154 |
Map | rs754614154 |
PheGenI | rs754614154 |
Biobank | rs754614154 |
1000 genomes | rs754614154 |
hgdp | rs754614154 |
ensembl | rs754614154 |
geneview | rs754614154 |
scholar | rs754614154 |
rs754614154 | |
pharmgkb | rs754614154 |
gwascentral | rs754614154 |
openSNP | rs754614154 |
23andMe | rs754614154 |
SNPshot | rs754614154 |
SNPdbe | rs754614154 |
MSV3d | rs754614154 |
GWAS Ctlg | rs754614154 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs754614154(C;C) rs754614154(G;G) |
Alt | rs754614154(C;C) rs754614154(G;G) |
Reference | Rs754614154(T;T) |
Significance | Pathogenic |
Disease | Spherocytosis type 3 |
Variation | info |
Gene | SPTA1 |
CLNDBN | Spherocytosis type 3 |
Reversed | 0 |
HGVS | NC_000001.10:g.158606553T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000013723.22, |