rs80356653

Orientation

minus

Stabilized

minus

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

Make rs80356653(A;G)

Make rs80356653(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

17395647

Gene

ABCC8

is a	snp
is	mentioned by
dbSNP	rs80356653
dbSNP (classic)	rs80356653
ClinGen	rs80356653
ebi	rs80356653
HLI	rs80356653
Exac	rs80356653
Gnomad	rs80356653
Varsome	rs80356653
LitVar	rs80356653
Map	rs80356653
PheGenI	rs80356653
Biobank	rs80356653
1000 genomes	rs80356653
hgdp	rs80356653
ensembl	rs80356653
geneview	rs80356653
scholar	rs80356653
google	rs80356653
pharmgkb	rs80356653
gwascentral	rs80356653
openSNP	rs80356653
23andMe	rs80356653
SNPshot	rs80356653
SNPdbe	rs80356653
MSV3d	rs80356653
GWAS Ctlg	rs80356653

Max Magnitude

0

OMIM	600509
Desc
Variant	0018
Related	also

ClinVar
Risk	rs80356653(G;G)
Alt	rs80356653(G;G)
Reference	Rs80356653(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.17417194T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009672.5,

[PMID 16885549] Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.