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rs78242949

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 1 Jk-null Kidd blood group, Finnish type
(C;T) 1 Carrier of one Jk-null Kidd blood group antigen allele
(T;T) 0 common in complete genomics
ReferenceGRCh38 38.1/141
Chromosome18
Position45739587
GeneSLC14A1
is asnp
is mentioned by
dbSNPrs78242949
ebirs78242949
HLIrs78242949
Exacrs78242949
Varsomers78242949
Maprs78242949
PheGenIrs78242949
hapmaprs78242949
1000 genomesrs78242949
hgdprs78242949
ensemblrs78242949
gopubmedrs78242949
geneviewrs78242949
scholarrs78242949
googlers78242949
pharmgkbrs78242949
gwascentralrs78242949
openSNPrs78242949
23andMers78242949
23andMe allrs78242949
SNP Nexus

SNPshotrs78242949
SNPdbers78242949
MSV3drs78242949
GWAS Ctlgrs78242949
GMAF0.003214
Max Magnitude1

rs78242949, also known as c.871T>C, p.Ser291Pro and S291P, encodes a rare variant in the SLC14A1 gene on chromosome 18.

The variant, rs78242949(C), leads to a lack of the Jk Kidd blood group antigen, and if two copies of it are inherited, the result is a Jk-null variant for that blood group, known as the Finnish type null variant.[PMID 10942407]

OMIM111000
Desc
Variant0004
Relatedalso
ClinVar
Risk rs78242949(C;C)
Alt rs78242949(C;C)
Reference rs78242949(T;T)
Significance Pathogenic
Disease Jk-null variant
Variation info
Gene SLC14A1
CLNDBN Jk-null variant, finnish type
Reversed 0
HGVS NC_000018.9:g.43319552T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000019293.2,