rs1057517420

Orientation

minus

Stabilized

minus

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

Make rs1057517420(C;C)

Make rs1057517420(C;G)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

17408518

Gene

ABCC8

is a	snp
is	mentioned by
dbSNP	rs1057517420
dbSNP (classic)	rs1057517420
ClinGen	rs1057517420
ebi	rs1057517420
HLI	rs1057517420
Exac	rs1057517420
Gnomad	rs1057517420
Varsome	rs1057517420
LitVar	rs1057517420
Map	rs1057517420
PheGenI	rs1057517420
Biobank	rs1057517420
1000 genomes	rs1057517420
hgdp	rs1057517420
ensembl	rs1057517420
geneview	rs1057517420
scholar	rs1057517420
google	rs1057517420
pharmgkb	rs1057517420
gwascentral	rs1057517420
openSNP	rs1057517420
23andMe	rs1057517420
SNPshot	rs1057517420
SNPdbe	rs1057517420
MSV3d	rs1057517420
GWAS Ctlg	rs1057517420

Max Magnitude

0

ClinVar
Risk	rs1057517420(C;C)
Alt	rs1057517420(C;C)
Reference	Rs1057517420(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.17430065C>G
CLNSRC
CLNACC	RCV000409858.1,