rs1057517199

Orientation

minus

Stabilized

minus

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

Make rs1057517199(-;A)

Make rs1057517199(A;A)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

17461820

Gene

ABCC8

is a	snp
is	mentioned by
dbSNP	rs1057517199
dbSNP (classic)	rs1057517199
ClinGen	rs1057517199
ebi	rs1057517199
HLI	rs1057517199
Exac	rs1057517199
Gnomad	rs1057517199
Varsome	rs1057517199
LitVar	rs1057517199
Map	rs1057517199
PheGenI	rs1057517199
Biobank	rs1057517199
1000 genomes	rs1057517199
hgdp	rs1057517199
ensembl	rs1057517199
geneview	rs1057517199
scholar	rs1057517199
google	rs1057517199
pharmgkb	rs1057517199
gwascentral	rs1057517199
openSNP	rs1057517199
23andMe	rs1057517199
SNPshot	rs1057517199
SNPdbe	rs1057517199
MSV3d	rs1057517199
GWAS Ctlg	rs1057517199

Max Magnitude

0

ClinVar
Risk	rs1057517199(A;A)
Alt	rs1057517199(A;A)
Reference	Rs1057517199(-;-)
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.17483368dupT
CLNSRC
CLNACC	RCV000410704.1,