rs78242949
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| 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 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 18 |
| Position | 45739587 |
| Gene | LOC105372093, SLC14A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs78242949 |
| dbSNP (classic) | rs78242949 |
| ClinGen | rs78242949 |
| ebi | rs78242949 |
| HLI | rs78242949 |
| Exac | rs78242949 |
| Gnomad | rs78242949 |
| Varsome | rs78242949 |
| LitVar | rs78242949 |
| Map | rs78242949 |
| PheGenI | rs78242949 |
| Biobank | rs78242949 |
| 1000 genomes | rs78242949 |
| hgdp | rs78242949 |
| ensembl | rs78242949 |
| geneview | rs78242949 |
| scholar | rs78242949 |
| rs78242949 | |
| pharmgkb | rs78242949 |
| gwascentral | rs78242949 |
| openSNP | rs78242949 |
| 23andMe | rs78242949 |
| SNPshot | rs78242949 |
| SNPdbe | rs78242949 |
| MSV3d | rs78242949 |
| GWAS Ctlg | rs78242949 |
| GMAF | 0.003214 |
| Max Magnitude | 1 |
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]
| 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 UniProtKB (protein) |
| CLNACC | RCV000019293.2, |
