Have questions? Visit https://www.reddit.com/r/SNPedia

rs78378398

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs78378398(A;A)
Make rs78378398(A;C)
ReferenceGRCh38 38.1/141
Chromosome6
Position29673282
GeneZFP57
is asnp
is mentioned by
dbSNPrs78378398
ebirs78378398
HLIrs78378398
Exacrs78378398
Varsomers78378398
Maprs78378398
PheGenIrs78378398
hapmaprs78378398
1000 genomesrs78378398
hgdprs78378398
ensemblrs78378398
gopubmedrs78378398
geneviewrs78378398
scholarrs78378398
googlers78378398
pharmgkbrs78378398
gwascentralrs78378398
openSNPrs78378398
23andMers78378398
23andMe allrs78378398
SNP Nexus

SNPshotrs78378398
SNPdbers78378398
MSV3drs78378398
GWAS Ctlgrs78378398
Merged fromRs118204434
Max Magnitude0
OMIM612192
Desc
Variant0006
Relatedalso
ClinVar
Risk rs78378398(A;A)
Alt rs78378398(A;A)
Reference rs78378398(C;C)
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.29641059G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000756.2,


[PMID 18622393] Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57.