rs78378398

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs78378398(A;A)

Make rs78378398(A;C)

Reference

GRCh38 38.1/141

Chromosome

6

Position

29673282

Gene

ZFP57

is a	snp
is	mentioned by
dbSNP	rs78378398
dbSNP (classic)	rs78378398
ClinGen	rs78378398
ebi	rs78378398
HLI	rs78378398
Exac	rs78378398
Gnomad	rs78378398
Varsome	rs78378398
LitVar	rs78378398
Map	rs78378398
PheGenI	rs78378398
Biobank	rs78378398
1000 genomes	rs78378398
hgdp	rs78378398
ensembl	rs78378398
geneview	rs78378398
scholar	rs78378398
google	rs78378398
pharmgkb	rs78378398
gwascentral	rs78378398
openSNP	rs78378398
23andMe	rs78378398
SNPshot	rs78378398
SNPdbe	rs78378398
MSV3d	rs78378398
GWAS Ctlg	rs78378398

Merged from

Rs118204434

Max Magnitude

0

OMIM	612192
Desc
Variant	0006
Related	also

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	RCV000000756.3,

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