rs80356634

Orientation

minus

Stabilized

minus

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

Make rs80356634(A;G)

Make rs80356634(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

17474961

Gene

ABCC8

is a	snp
is	mentioned by
dbSNP	rs80356634
dbSNP (classic)	rs80356634
ClinGen	rs80356634
ebi	rs80356634
HLI	rs80356634
Exac	rs80356634
Gnomad	rs80356634
Varsome	rs80356634
LitVar	rs80356634
Map	rs80356634
PheGenI	rs80356634
Biobank	rs80356634
1000 genomes	rs80356634
hgdp	rs80356634
ensembl	rs80356634
geneview	rs80356634
scholar	rs80356634
google	rs80356634
pharmgkb	rs80356634
gwascentral	rs80356634
openSNP	rs80356634
23andMe	rs80356634
SNPshot	rs80356634
SNPdbe	rs80356634
MSV3d	rs80356634
GWAS Ctlg	rs80356634

Max Magnitude

0

OMIM	600509
Desc
Variant	0021
Related	also

ClinVar
Risk	rs80356634(G;G)
Alt	rs80356634(G;G)
Reference	Rs80356634(A;A)
Significance	Pathogenic
Disease	Permanent neonatal diabetes mellitus
Variation	info
Gene	ABCC8
CLNDBN	Permanent neonatal diabetes mellitus
Reversed	1
HGVS	NC_000011.9:g.17496508T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009677.2,

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