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.