rs77625743
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs77625743(A;A) |
Make rs77625743(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 29673368 |
Gene | ZFP57 |
is a | snp |
is | mentioned by |
dbSNP | rs77625743 |
dbSNP (classic) | rs77625743 |
ClinGen | rs77625743 |
ebi | rs77625743 |
HLI | rs77625743 |
Exac | rs77625743 |
Gnomad | rs77625743 |
Varsome | rs77625743 |
LitVar | rs77625743 |
Map | rs77625743 |
PheGenI | rs77625743 |
Biobank | rs77625743 |
1000 genomes | rs77625743 |
hgdp | rs77625743 |
ensembl | rs77625743 |
geneview | rs77625743 |
scholar | rs77625743 |
rs77625743 | |
pharmgkb | rs77625743 |
gwascentral | rs77625743 |
openSNP | rs77625743 |
23andMe | rs77625743 |
SNPshot | rs77625743 |
SNPdbe | rs77625743 |
MSV3d | rs77625743 |
GWAS Ctlg | rs77625743 |
Merged from | Rs118204433 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs77625743(A;A) |
Alt | rs77625743(A;A) |
Reference | Rs77625743(G;G) |
Significance | Pathogenic |
Disease | Transient neonatal diabetes mellitus 1 |
Variation | info |
Gene | ZFP57 |
CLNDBN | Transient neonatal diabetes mellitus 1 |
Reversed | 1 |
HGVS | NC_000006.11:g.29641145C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000000755.3, |
[PMID 18622393] Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57.