rs1057516542

Orientation

minus

Stabilized

minus

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

Make rs1057516542(-;-)

Make rs1057516542(-;AC)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

17427884

Gene

ABCC8

is a	snp
is	mentioned by
dbSNP	rs1057516542
dbSNP (classic)	rs1057516542
ClinGen	rs1057516542
ebi	rs1057516542
HLI	rs1057516542
Exac	rs1057516542
Gnomad	rs1057516542
Varsome	rs1057516542
LitVar	rs1057516542
Map	rs1057516542
PheGenI	rs1057516542
Biobank	rs1057516542
1000 genomes	rs1057516542
hgdp	rs1057516542
ensembl	rs1057516542
geneview	rs1057516542
scholar	rs1057516542
google	rs1057516542
pharmgkb	rs1057516542
gwascentral	rs1057516542
openSNP	rs1057516542
23andMe	rs1057516542
SNPshot	rs1057516542
SNPdbe	rs1057516542
MSV3d	rs1057516542
GWAS Ctlg	rs1057516542

Max Magnitude

0

ClinVar
Risk	rs1057516542(-;-)
Alt	rs1057516542(-;-)
Reference	Rs1057516542(AC;AC)
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.17449431_17449432delGT
CLNSRC
CLNACC	RCV000411725.1,