rs1057516890

Orientation

minus

Stabilized

minus

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

Make rs1057516890(AA;T)

Make rs1057516890(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

17396962

Gene

ABCC8

is a	snp
is	mentioned by
dbSNP	rs1057516890
dbSNP (classic)	rs1057516890
ClinGen	rs1057516890
ebi	rs1057516890
HLI	rs1057516890
Exac	rs1057516890
Gnomad	rs1057516890
Varsome	rs1057516890
LitVar	rs1057516890
Map	rs1057516890
PheGenI	rs1057516890
Biobank	rs1057516890
1000 genomes	rs1057516890
hgdp	rs1057516890
ensembl	rs1057516890
geneview	rs1057516890
scholar	rs1057516890
google	rs1057516890
pharmgkb	rs1057516890
gwascentral	rs1057516890
openSNP	rs1057516890
23andMe	rs1057516890
SNPshot	rs1057516890
SNPdbe	rs1057516890
MSV3d	rs1057516890
GWAS Ctlg	rs1057516890

Max Magnitude

0

ClinVar
Risk	rs1057516890(T;T)
Alt	rs1057516890(T;T)
Reference	Rs1057516890(AA;AA)
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.17418509_17418510delTTinsA
CLNSRC
CLNACC	RCV000409392.1,