rs1057516589

Orientation

minus

Stabilized

minus

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

Make rs1057516589(C;C)

Make rs1057516589(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

17416928

Gene

ABCC8

is a	snp
is	mentioned by
dbSNP	rs1057516589
dbSNP (classic)	rs1057516589
ClinGen	rs1057516589
ebi	rs1057516589
HLI	rs1057516589
Exac	rs1057516589
Gnomad	rs1057516589
Varsome	rs1057516589
LitVar	rs1057516589
Map	rs1057516589
PheGenI	rs1057516589
Biobank	rs1057516589
1000 genomes	rs1057516589
hgdp	rs1057516589
ensembl	rs1057516589
geneview	rs1057516589
scholar	rs1057516589
google	rs1057516589
pharmgkb	rs1057516589
gwascentral	rs1057516589
openSNP	rs1057516589
23andMe	rs1057516589
SNPshot	rs1057516589
SNPdbe	rs1057516589
MSV3d	rs1057516589
GWAS Ctlg	rs1057516589

Max Magnitude

0

ClinVar
Risk	rs1057516589(C;C)
Alt	rs1057516589(C;C)
Reference	Rs1057516589(T;T)
Significance	Probable-Pathogenic
Disease	Persistent hyperinsulinemic hypoglycemia of infancy
Variation	info
Gene	ABCC8
CLNDBN	Persistent hyperinsulinemic hypoglycemia of infancy
Reversed	1
HGVS	NC_000011.9:g.17438475A>G
CLNSRC
CLNACC	RCV000411947.1,