rs8176038

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	1	Kell blood group; Jsa/Jsa (aka Js(a+b-)) antigen
(C;T)	1	Kell blood group; Jsa/Jsb antigen (heterozygote)
(T;T)	0	common in clinvar; Kell blood group, Jsb/Jsb antigen

Reference

GRCh38 38.1/142

Chromosome

7

Position

142943026

Gene

KEL

is a	snp
is	mentioned by
dbSNP	rs8176038
dbSNP (classic)	rs8176038
ClinGen	rs8176038
ebi	rs8176038
HLI	rs8176038
Exac	rs8176038
Gnomad	rs8176038
Varsome	rs8176038
LitVar	rs8176038
Map	rs8176038
PheGenI	rs8176038
Biobank	rs8176038
1000 genomes	rs8176038
hgdp	rs8176038
ensembl	rs8176038
geneview	rs8176038
scholar	rs8176038
google	rs8176038
pharmgkb	rs8176038
gwascentral	rs8176038
openSNP	rs8176038
23andMe	rs8176038
SNPshot	rs8176038
SNPdbe	rs8176038
MSV3d	rs8176038
GWAS Ctlg	rs8176038

GMAF

0.02296

Max Magnitude

1

aka c.1790T>C, p.Leu597Pro or L597P

encodes the KEL7/KEL6 alleles (and thereby the Jsb/Jsa antigens, respectively) of the KEL blood group

?	(C;C) (C;T) (T;T)	28

ClinVar
Risk	Rs8176038(C;C)
Alt	Rs8176038(C;C)
Reference	Rs8176038(T;T)
Significance	Pathogenic
Disease	Kel6 antigen
Variation	info
Gene	KEL
CLNDBN	Kel6 antigen
Reversed	1
HGVS	NC_000007.13:g.142640113A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000024078.2,

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