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rs8176058

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common
(C;T) 1.4 KELL K/k BLOOD GROUP carrier
(T;T) 2.5 KELL K/k BLOOD GROUP
ReferenceGRCh38 38.1/142
Chromosome7
Position142957921
GeneKEL
is asnp
is mentioned by
dbSNPrs8176058
ebirs8176058
HLIrs8176058
Exacrs8176058
Varsomers8176058
Maprs8176058
PheGenIrs8176058
hapmaprs8176058
1000 genomesrs8176058
hgdprs8176058
ensemblrs8176058
gopubmedrs8176058
geneviewrs8176058
scholarrs8176058
googlers8176058
pharmgkbrs8176058
gwascentralrs8176058
openSNPrs8176058
23andMers8176058
23andMe allrs8176058
SNP Nexus

SNPshotrs8176058
SNPdbers8176058
MSV3drs8176058
GWAS Ctlgrs8176058
GMAF0.01745
Max Magnitude2.5
? (C;C) (C;T) (T;T) 28
OMIM110900
DescKELL K/k BLOOD GROUP POLYMORPHISM
Variant0001
Relatedalso


ClinVar
Risk rs8176058(G,T;G,T)
Alt rs8176058(G,T;G,T)
Reference rs8176058(C;C)
Significance Non-pathogenic
Disease KELL K/k BLOOD GROUP POLYMORPHISM
Variation info
Gene KEL
CLNDBN KELL K/k BLOOD GROUP POLYMORPHISM
Reversed 1
HGVS NC_000007.13:g.142655008G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019295.2,



[PMID 21257350OA-icon.png] DNA-based methods in the immunohematology reference laboratory.

[PMID 7849312] Molecular basis of the Kell (K1) phenotype.


GET Evidence
KEL-T193M
aa_change Thr193Met
aa_change_short T193M
impact benign
qualified_impact Low clinical importance, Uncertain benign
overall_frequency 0.0320692
summary This variant is also known as Kell or K1 or K (capitalized) in the Kell antigen system. K1-negative mothers (carrying no copies of this variant) carrying K1-positive fetuses (heterozygous or homozygous) are at risk for hemolytic disease of the newborn. About 9% of caucasians carry one or two copies of K1.



Non-ABO Blood Groups