rs1057516281

Orientation

minus

Stabilized

minus

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

Make rs1057516281(C;T)

Make rs1057516281(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

17398344

Gene

ABCC8

is a	snp
is	mentioned by
dbSNP	rs1057516281
dbSNP (classic)	rs1057516281
ClinGen	rs1057516281
ebi	rs1057516281
HLI	rs1057516281
Exac	rs1057516281
Gnomad	rs1057516281
Varsome	rs1057516281
LitVar	rs1057516281
Map	rs1057516281
PheGenI	rs1057516281
Biobank	rs1057516281
1000 genomes	rs1057516281
hgdp	rs1057516281
ensembl	rs1057516281
geneview	rs1057516281
scholar	rs1057516281
google	rs1057516281
pharmgkb	rs1057516281
gwascentral	rs1057516281
openSNP	rs1057516281
23andMe	rs1057516281
SNPshot	rs1057516281
SNPdbe	rs1057516281
MSV3d	rs1057516281
GWAS Ctlg	rs1057516281

Max Magnitude

0

ClinVar
Risk	rs1057516281(T;T)
Alt	rs1057516281(T;T)
Reference	Rs1057516281(C;C)
Significance	Pathogenic
Disease	Persistent hyperinsulinemic hypoglycemia of infancy
Variation	info
Gene	ABCC8
CLNDBN	Persistent hyperinsulinemic hypoglycemia of infancy
Reversed	1
HGVS	NC_000011.9:g.17419891G>A
CLNSRC
CLNACC	RCV000410347.1,