rs61730328
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs61730328(G;T) |
| Make rs61730328(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 29673328 |
| Gene | ZFP57 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs61730328 |
| dbSNP (classic) | rs61730328 |
| ClinGen | rs61730328 |
| ebi | rs61730328 |
| HLI | rs61730328 |
| Exac | rs61730328 |
| Gnomad | rs61730328 |
| Varsome | rs61730328 |
| LitVar | rs61730328 |
| Map | rs61730328 |
| PheGenI | rs61730328 |
| Biobank | rs61730328 |
| 1000 genomes | rs61730328 |
| hgdp | rs61730328 |
| ensembl | rs61730328 |
| geneview | rs61730328 |
| scholar | rs61730328 |
| rs61730328 | |
| pharmgkb | rs61730328 |
| gwascentral | rs61730328 |
| openSNP | rs61730328 |
| 23andMe | rs61730328 |
| SNPshot | rs61730328 |
| SNPdbe | rs61730328 |
| MSV3d | rs61730328 |
| GWAS Ctlg | rs61730328 |
| Merged from | Rs118204431 |
| GMAF | 0.005051 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs61730328(A;A) rs61730328(T;T) |
| Alt | rs61730328(A;A) rs61730328(T;T) |
| Reference | Rs61730328(G;G) |
| Significance | Pathogenic |
| Disease | not specified Transient neonatal diabetes mellitus 1 |
| Variation | info |
| Gene | ZFP57 |
| CLNDBN | not specified Transient neonatal diabetes mellitus 1 |
| Reversed | 0 |
| HGVS | NC_000006.11:g.29641105G>A; NC_000006.11:g.29641105G>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000118890.1, RCV000000751.2, |
[PMID 18197189] Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings.
[PMID 18622393] Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57.
