rs8176059
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs8176059(C;T) |
Make rs8176059(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 7 |
Position | 142954267 |
Gene | KEL |
is a | snp |
is | mentioned by |
dbSNP | rs8176059 |
dbSNP (classic) | rs8176059 |
ClinGen | rs8176059 |
ebi | rs8176059 |
HLI | rs8176059 |
Exac | rs8176059 |
Gnomad | rs8176059 |
Varsome | rs8176059 |
LitVar | rs8176059 |
Map | rs8176059 |
PheGenI | rs8176059 |
Biobank | rs8176059 |
1000 genomes | rs8176059 |
hgdp | rs8176059 |
ensembl | rs8176059 |
geneview | rs8176059 |
scholar | rs8176059 |
rs8176059 | |
pharmgkb | rs8176059 |
gwascentral | rs8176059 |
openSNP | rs8176059 |
23andMe | rs8176059 |
SNPshot | rs8176059 |
SNPdbe | rs8176059 |
MSV3d | rs8176059 |
GWAS Ctlg | rs8176059 |
GMAF | 0.00551 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs8176059(T;T) |
Alt | rs8176059(T;T) |
Reference | Rs8176059(C;C) |
Significance | Untested |
Disease | |
Variation | info |
Gene | KEL |
CLNDBN | |
Reversed | 1 |
HGVS | NC_000007.13:g.142651354G>A |
CLNSRC | |
CLNACC |
[PMID 21257350] DNA-based methods in the immunohematology reference laboratory.
[PMID 8669078] Point mutations characterize KEL10, the KEL3, KEL4, and KEL21 alleles, and the KEL17 and KEL11 alleles.
[PMID 17381630] Genetic diversity of KELnull and KELel: a nationwide Austrian survey.