rs1057516946

Orientation

minus

Stabilized

minus

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

Make rs1057516946(A;C)

Make rs1057516946(C;C)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

17442884

Gene

ABCC8

is a	snp
is	mentioned by
dbSNP	rs1057516946
dbSNP (classic)	rs1057516946
ClinGen	rs1057516946
ebi	rs1057516946
HLI	rs1057516946
Exac	rs1057516946
Gnomad	rs1057516946
Varsome	rs1057516946
LitVar	rs1057516946
Map	rs1057516946
PheGenI	rs1057516946
Biobank	rs1057516946
1000 genomes	rs1057516946
hgdp	rs1057516946
ensembl	rs1057516946
geneview	rs1057516946
scholar	rs1057516946
google	rs1057516946
pharmgkb	rs1057516946
gwascentral	rs1057516946
openSNP	rs1057516946
23andMe	rs1057516946
SNPshot	rs1057516946
SNPdbe	rs1057516946
MSV3d	rs1057516946
GWAS Ctlg	rs1057516946

Max Magnitude

0

ClinVar
Risk	rs1057516946(C;C)
Alt	rs1057516946(C;C)
Reference	Rs1057516946(A;A)
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.17464431T>G
CLNSRC
CLNACC	RCV000411098.1,