rs80356642

Orientation

minus

Stabilized

minus

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

Make rs80356642(G;G)

Make rs80356642(G;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

17461767

Gene

ABCC8

is a	snp
is	mentioned by
dbSNP	rs80356642
dbSNP (classic)	rs80356642
ClinGen	rs80356642
ebi	rs80356642
HLI	rs80356642
Exac	rs80356642
Gnomad	rs80356642
Varsome	rs80356642
LitVar	rs80356642
Map	rs80356642
PheGenI	rs80356642
Biobank	rs80356642
1000 genomes	rs80356642
hgdp	rs80356642
ensembl	rs80356642
geneview	rs80356642
scholar	rs80356642
google	rs80356642
pharmgkb	rs80356642
gwascentral	rs80356642
openSNP	rs80356642
23andMe	rs80356642
SNPshot	rs80356642
SNPdbe	rs80356642
MSV3d	rs80356642
GWAS Ctlg	rs80356642

Max Magnitude

0

OMIM	600509
Desc
Variant	0017
Related	also

ClinVar
Risk	rs80356642(G;G)
Alt	rs80356642(G;G)
Reference	Rs80356642(T;T)
Significance	Pathogenic
Disease	Permanent neonatal diabetes mellitus
Variation	info
Gene	ABCC8
CLNDBN	Permanent neonatal diabetes mellitus
Reversed	1
HGVS	NC_000011.9:g.17483314A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009671.3,

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