rs79020217
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs79020217(C;G) |
Make rs79020217(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 29672739 |
Gene | MOG, ZFP57 |
is a | snp |
is | mentioned by |
dbSNP | rs79020217 |
dbSNP (classic) | rs79020217 |
ClinGen | rs79020217 |
ebi | rs79020217 |
HLI | rs79020217 |
Exac | rs79020217 |
Gnomad | rs79020217 |
Varsome | rs79020217 |
LitVar | rs79020217 |
Map | rs79020217 |
PheGenI | rs79020217 |
Biobank | rs79020217 |
1000 genomes | rs79020217 |
hgdp | rs79020217 |
ensembl | rs79020217 |
geneview | rs79020217 |
scholar | rs79020217 |
rs79020217 | |
pharmgkb | rs79020217 |
gwascentral | rs79020217 |
openSNP | rs79020217 |
23andMe | rs79020217 |
SNPshot | rs79020217 |
SNPdbe | rs79020217 |
MSV3d | rs79020217 |
GWAS Ctlg | rs79020217 |
Merged from | Rs118204432 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs79020217(G;G) |
Alt | rs79020217(G;G) |
Reference | Rs79020217(C;C) |
Significance | Pathogenic |
Disease | Transient neonatal diabetes mellitus 1 |
Variation | info |
Gene | MOG ZFP57 |
CLNDBN | Transient neonatal diabetes mellitus 1 |
Reversed | 1 |
HGVS | NC_000006.11:g.29640516G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000754.3, |
[PMID 18622393] Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57.