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rs61730328

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs61730328(G;T)
Make rs61730328(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position29673328
GeneZFP57
is asnp
is mentioned by
dbSNPrs61730328
ebirs61730328
HLIrs61730328
Exacrs61730328
Varsomers61730328
Maprs61730328
PheGenIrs61730328
hapmaprs61730328
1000 genomesrs61730328
hgdprs61730328
ensemblrs61730328
gopubmedrs61730328
geneviewrs61730328
scholarrs61730328
googlers61730328
pharmgkbrs61730328
gwascentralrs61730328
openSNPrs61730328
23andMers61730328
23andMe allrs61730328
SNP Nexus

SNPshotrs61730328
SNPdbers61730328
MSV3drs61730328
GWAS Ctlgrs61730328
Merged fromRs118204431
GMAF0.005051
Max Magnitude0
OMIM612192
Desc
Variant0001
Relatedalso
ClinVar
Risk rs61730328(A,T;A,T)
Alt rs61730328(A,T;A,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.