rs56361140
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs56361140(C;T) |
Make rs56361140(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 44260441 |
Gene | SLC4A1 |
is a | snp |
is | mentioned by |
dbSNP | rs56361140 |
dbSNP (classic) | rs56361140 |
ClinGen | rs56361140 |
ebi | rs56361140 |
HLI | rs56361140 |
Exac | rs56361140 |
Gnomad | rs56361140 |
Varsome | rs56361140 |
LitVar | rs56361140 |
Map | rs56361140 |
PheGenI | rs56361140 |
Biobank | rs56361140 |
1000 genomes | rs56361140 |
hgdp | rs56361140 |
ensembl | rs56361140 |
geneview | rs56361140 |
scholar | rs56361140 |
rs56361140 | |
pharmgkb | rs56361140 |
gwascentral | rs56361140 |
openSNP | rs56361140 |
23andMe | rs56361140 |
SNPshot | rs56361140 |
SNPdbe | rs56361140 |
MSV3d | rs56361140 |
GWAS Ctlg | rs56361140 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs56361140(A;A) rs56361140(G;G) rs56361140(T;T) |
Alt | rs56361140(A;A) rs56361140(G;G) rs56361140(T;T) |
Reference | Rs56361140(C;C) |
Significance | Pathogenic |
Disease | Spherocytosis type 4 |
Variation | info |
Gene | SLC4A1 |
CLNDBN | Spherocytosis type 4 |
Reversed | 1 |
HGVS | NC_000017.10:g.42337809G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000019339.29, |