rs59172778
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 1 | harmless |
| (G;G) | 1 | harmless |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 128839231 |
| Gene | KCNJ1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs59172778 |
| dbSNP (classic) | rs59172778 |
| ClinGen | rs59172778 |
| ebi | rs59172778 |
| HLI | rs59172778 |
| Exac | rs59172778 |
| Gnomad | rs59172778 |
| Varsome | rs59172778 |
| LitVar | rs59172778 |
| Map | rs59172778 |
| PheGenI | rs59172778 |
| Biobank | rs59172778 |
| 1000 genomes | rs59172778 |
| hgdp | rs59172778 |
| ensembl | rs59172778 |
| geneview | rs59172778 |
| scholar | rs59172778 |
| rs59172778 | |
| pharmgkb | rs59172778 |
| gwascentral | rs59172778 |
| openSNP | rs59172778 |
| 23andMe | rs59172778 |
| SNPshot | rs59172778 |
| SNPdbe | rs59172778 |
| MSV3d | rs59172778 |
| GWAS Ctlg | rs59172778 |
| GMAF | 0.005051 |
| Max Magnitude | 1 |
rs59172778, also known as c.1013T>C or p.Met338Thr, is a relatively rare variant in the KCNJ1 gene.
The minor rs59172778(G) allele was originally reported (in 1996) as a mutation leading to recessively inherited type 2 Bartter syndrome. The (G) allele is rare, usually being found in just under 1% of allele counts, but Bartter syndrome appears to be even rarer. This implies that the (G) allele may not be fully causative or penetrant, and more recently (as of ~2015) two labs are reporting in ClinVar that they believe this variant is benign. Anecdotally, we (SNPedia) have also heard from an rs59172778(G;G) individual who has no signs of Bartter syndrome.
So while it remains possible that the rs59172778(G) allele is a very weakly penetrant mutation associated with Bartter syndrome as originally reported, the preponderance of evidence is now indicating it is a benign polymorphism.
| ClinVar | |
|---|---|
| Risk | Rs59172778(G;G) |
| Alt | Rs59172778(G;G) |
| Reference | Rs59172778(A;A) |
| Significance | Pathogenic |
| Disease | Bartter syndrome not specified not provided |
| Variation | info |
| Gene | KCNJ1 |
| CLNDBN | Bartter syndrome, type 2, antenatal not specified not provided |
| Reversed | 0 |
| HGVS | NC_000011.9:g.128709126A>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000009728.2, RCV000202885.1, RCV000224891.1, |
