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rs8176059

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs8176059(C;T)
Make rs8176059(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position142954267
GeneKEL
is asnp
is mentioned by
dbSNPrs8176059
dbSNP (classic)rs8176059
ClinGenrs8176059
ebirs8176059
HLIrs8176059
Exacrs8176059
Gnomadrs8176059
Varsomers8176059
LitVarrs8176059
Maprs8176059
PheGenIrs8176059
Biobankrs8176059
1000 genomesrs8176059
hgdprs8176059
ensemblrs8176059
geneviewrs8176059
scholarrs8176059
googlers8176059
pharmgkbrs8176059
gwascentralrs8176059
openSNPrs8176059
23andMers8176059
SNPshotrs8176059
SNPdbers8176059
MSV3drs8176059
GWAS Ctlgrs8176059
GMAF0.00551
Max Magnitude0
? (C;C) (C;T) (T;T) 28


Non-ABO Blood Groups


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 21257350OA-icon.png] 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.