rs1058396

plus

Geno	Mag	Summary
(A;A)	1	Jk(a-/b+) Kidd blood group, barring other variants
(A;G)	1	Jk(a+/b+) Kidd blood group, barring other variants
(G;G)	1	Jk(a+/b-) Kidd blood group, barring other variants

Reference

GRCh38 38.1/141

Chromosome

18

Position

45739554

Gene	LOC105372093, SLC14A1

is a	snp
is	mentioned by
dbSNP	rs1058396
dbSNP (classic)	rs1058396
ClinGen	rs1058396
ebi	rs1058396
HLI	rs1058396
Exac	rs1058396
Gnomad	rs1058396
Varsome	rs1058396
LitVar	rs1058396
Map	rs1058396
PheGenI	rs1058396
Biobank	rs1058396
1000 genomes	rs1058396
hgdp	rs1058396
ensembl	rs1058396
geneview	rs1058396
scholar	rs1058396
google	rs1058396
pharmgkb	rs1058396
gwascentral	rs1058396
openSNP	rs1058396
23andMe	rs1058396
SNPshot	rs1058396
SNPdbe	rs1058396
MSV3d	rs1058396
GWAS Ctlg	rs1058396

Merged from

Rs17859515

GMAF

0.45

Max Magnitude

1

rs1058396, also known as c.838G>A, p.Asp280Asn and D280N, is a variant in the SLC14A1 gene on chromosome 18 that encodes the Jk(a)/Jk(b) Kidd Blood Group antigens. The rs1058396(G) allele encodes the Asp amino acid defining the Jk(a) antigen, and the (A) allele encodes the Asn defining Jk(b).[PMID 9215669]

?

(A;A) (A;G) (G;G)

28

OMIM	111000
Desc
Variant	0001
Related	also

ClinVar
Risk	Rs1058396(A;A)
Alt	Rs1058396(A;A)
Reference	Rs1058396(G;G)
Significance	Non-pathogenic
Disease	KIDD BLOOD POLYMORPHISM Jk(a)/Jk(b)
Variation	info
Gene	SLC14A1
CLNDBN	KIDD BLOOD POLYMORPHISM Jk(a)/Jk(b)
Reversed	0
HGVS	NC_000018.9:g.43319519G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019290.2,

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

Bladder Cancer

Non-ABO Blood Groups

[PMID 29028944 ] Identification and replication of the interplay of four genetic high risk variants for urinary bladder cancer.