rs1057517139

Orientation

minus

Stabilized

minus

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

Make rs1057517139(A;A)

Make rs1057517139(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

17461713

Gene

ABCC8

is a	snp
is	mentioned by
dbSNP	rs1057517139
dbSNP (classic)	rs1057517139
ClinGen	rs1057517139
ebi	rs1057517139
HLI	rs1057517139
Exac	rs1057517139
Gnomad	rs1057517139
Varsome	rs1057517139
LitVar	rs1057517139
Map	rs1057517139
PheGenI	rs1057517139
Biobank	rs1057517139
1000 genomes	rs1057517139
hgdp	rs1057517139
ensembl	rs1057517139
geneview	rs1057517139
scholar	rs1057517139
google	rs1057517139
pharmgkb	rs1057517139
gwascentral	rs1057517139
openSNP	rs1057517139
23andMe	rs1057517139
SNPshot	rs1057517139
SNPdbe	rs1057517139
MSV3d	rs1057517139
GWAS Ctlg	rs1057517139

Max Magnitude

0

ClinVar
Risk	rs1057517139(A;A)
Alt	rs1057517139(A;A)
Reference	Rs1057517139(G;G)
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.17483260C>T
CLNSRC
CLNACC	RCV000410965.1,