rs137852672

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;T)	3	Carrier of a hyperinsulinemic hypoglycemia mutation
(T;T)	0	common in clinvar

Make rs137852672(A;A)

Reference

GRCh38 38.1/141

Chromosome

11

Position

17463457

Gene

ABCC8

is a	snp
is	mentioned by
dbSNP	rs137852672
dbSNP (classic)	rs137852672
ClinGen	rs137852672
ebi	rs137852672
HLI	rs137852672
Exac	rs137852672
Gnomad	rs137852672
Varsome	rs137852672
LitVar	rs137852672
Map	rs137852672
PheGenI	rs137852672
Biobank	rs137852672
1000 genomes	rs137852672
hgdp	rs137852672
ensembl	rs137852672
geneview	rs137852672
scholar	rs137852672
google	rs137852672
pharmgkb	rs137852672
gwascentral	rs137852672
openSNP	rs137852672
23andMe	rs137852672
SNPshot	rs137852672
SNPdbe	rs137852672
MSV3d	rs137852672
GWAS Ctlg	rs137852672

Max Magnitude

3

aka c.560T>A (p.Val187Asp or V187D)

OMIM	600509
Desc
Variant	0013
Related	also

ClinVar
Risk	rs137852672(A;A)
Alt	rs137852672(A;A)
Reference	Rs137852672(T;T)
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.17485004A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009667.2,