rs80356640

Orientation

minus

Stabilized

minus

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

Make rs80356640(A;A)

Make rs80356640(A;C)

Reference

GRCh38 38.1/141

Chromosome

11

Position

17461778

Gene

ABCC8

is a	snp
is	mentioned by
dbSNP	rs80356640
dbSNP (classic)	rs80356640
ClinGen	rs80356640
ebi	rs80356640
HLI	rs80356640
Exac	rs80356640
Gnomad	rs80356640
Varsome	rs80356640
LitVar	rs80356640
Map	rs80356640
PheGenI	rs80356640
Biobank	rs80356640
1000 genomes	rs80356640
hgdp	rs80356640
ensembl	rs80356640
geneview	rs80356640
scholar	rs80356640
google	rs80356640
pharmgkb	rs80356640
gwascentral	rs80356640
openSNP	rs80356640
23andMe	rs80356640
SNPshot	rs80356640
SNPdbe	rs80356640
MSV3d	rs80356640
GWAS Ctlg	rs80356640

Max Magnitude

0

ClinVar
Risk	rs80356640(A;A) rs80356640(T;T)
Alt	rs80356640(A;A) rs80356640(T;T)
Reference	Rs80356640(C;C)
Significance	Pathogenic
Disease	Permanent neonatal diabetes mellitus
Variation	info
Gene	ABCC8
CLNDBN	Permanent neonatal diabetes mellitus
Reversed	1
HGVS	NC_000011.9:g.17483325G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000020289.1,

[PMID 17446535] Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood.

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