rs80356651

Orientation

minus

Stabilized

minus

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

Make rs80356651(A;A)

Make rs80356651(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

17453151

Gene

ABCC8

is a	snp
is	mentioned by
dbSNP	rs80356651
dbSNP (classic)	rs80356651
ClinGen	rs80356651
ebi	rs80356651
HLI	rs80356651
Exac	rs80356651
Gnomad	rs80356651
Varsome	rs80356651
LitVar	rs80356651
Map	rs80356651
PheGenI	rs80356651
Biobank	rs80356651
1000 genomes	rs80356651
hgdp	rs80356651
ensembl	rs80356651
geneview	rs80356651
scholar	rs80356651
google	rs80356651
pharmgkb	rs80356651
gwascentral	rs80356651
openSNP	rs80356651
23andMe	rs80356651
SNPshot	rs80356651
SNPdbe	rs80356651
MSV3d	rs80356651
GWAS Ctlg	rs80356651

Max Magnitude

0

OMIM	600509
Desc
Variant	0022
Related	also

ClinVar
Risk	rs80356651(A;A)
Alt	rs80356651(A;A)
Reference	Rs80356651(G;G)
Significance	Pathogenic
Disease	Permanent neonatal diabetes mellitus
Variation	info
Gene	ABCC8
CLNDBN	Permanent neonatal diabetes mellitus
Reversed	1
HGVS	NC_000011.9:g.17474698C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009678.5,

[PMID 17668386] Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects.