rs28938469

Orientation

minus

Stabilized

minus

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

Make rs28938469(C;T)

Make rs28938469(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

17395659

Gene

ABCC8

is a	snp
is	mentioned by
dbSNP	rs28938469
dbSNP (classic)	rs28938469
ClinGen	rs28938469
ebi	rs28938469
HLI	rs28938469
Exac	rs28938469
Gnomad	rs28938469
Varsome	rs28938469
LitVar	rs28938469
Map	rs28938469
PheGenI	rs28938469
Biobank	rs28938469
1000 genomes	rs28938469
hgdp	rs28938469
ensembl	rs28938469
geneview	rs28938469
scholar	rs28938469
google	rs28938469
pharmgkb	rs28938469
gwascentral	rs28938469
openSNP	rs28938469
23andMe	rs28938469
SNPshot	rs28938469
SNPdbe	rs28938469
MSV3d	rs28938469
GWAS Ctlg	rs28938469

Max Magnitude

0

OMIM	600509
Desc	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1
Variant	0009
Related	also

ClinVar
Risk	rs28938469(T;T)
Alt	rs28938469(T;T)
Reference	Rs28938469(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.17417206G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009663.3,