rs45562031
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs45562031(C;T) |
Make rs45562031(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 44261625 |
Gene | SLC4A1 |
is a | snp |
is | mentioned by |
dbSNP | rs45562031 |
dbSNP (classic) | rs45562031 |
ClinGen | rs45562031 |
ebi | rs45562031 |
HLI | rs45562031 |
Exac | rs45562031 |
Gnomad | rs45562031 |
Varsome | rs45562031 |
LitVar | rs45562031 |
Map | rs45562031 |
PheGenI | rs45562031 |
Biobank | rs45562031 |
1000 genomes | rs45562031 |
hgdp | rs45562031 |
ensembl | rs45562031 |
geneview | rs45562031 |
scholar | rs45562031 |
rs45562031 | |
pharmgkb | rs45562031 |
gwascentral | rs45562031 |
openSNP | rs45562031 |
23andMe | rs45562031 |
SNPshot | rs45562031 |
SNPdbe | rs45562031 |
MSV3d | rs45562031 |
GWAS Ctlg | rs45562031 |
GMAF | 0.007805 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs45562031(T;T) |
Alt | rs45562031(T;T) |
Reference | Rs45562031(C;C) |
Significance | Pathogenic |
Disease | Spherocytosis type 4 not specified Hemolytic anemia |
Variation | info |
Gene | SLC4A1 |
CLNDBN | Spherocytosis type 4 not specified Hemolytic anemia |
Reversed | 0 |
HGVS | NC_000017.10:g.42338993C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000019333.28, RCV000247655.1, RCV000298897.1, |