rs1057516718

Orientation

minus

Stabilized

minus

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

Make rs1057516718(C;T)

Make rs1057516718(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

17397014

Gene

ABCC8

is a	snp
is	mentioned by
dbSNP	rs1057516718
dbSNP (classic)	rs1057516718
ClinGen	rs1057516718
ebi	rs1057516718
HLI	rs1057516718
Exac	rs1057516718
Gnomad	rs1057516718
Varsome	rs1057516718
LitVar	rs1057516718
Map	rs1057516718
PheGenI	rs1057516718
Biobank	rs1057516718
1000 genomes	rs1057516718
hgdp	rs1057516718
ensembl	rs1057516718
geneview	rs1057516718
scholar	rs1057516718
google	rs1057516718
pharmgkb	rs1057516718
gwascentral	rs1057516718
openSNP	rs1057516718
23andMe	rs1057516718
SNPshot	rs1057516718
SNPdbe	rs1057516718
MSV3d	rs1057516718
GWAS Ctlg	rs1057516718

Max Magnitude

0

ClinVar
Risk	rs1057516718(T;T)
Alt	rs1057516718(T;T)
Reference	Rs1057516718(C;C)
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.17418561G>A
CLNSRC
CLNACC	RCV000411306.1,