rs193929369

Orientation

minus

Stabilized

minus

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

Make rs193929369(A;A)

Make rs193929369(A;C)

Reference

GRCh38 38.1/141

Chromosome

11

Position

17404515

Gene

ABCC8

is a	snp
is	mentioned by
dbSNP	rs193929369
dbSNP (classic)	rs193929369
ClinGen	rs193929369
ebi	rs193929369
HLI	rs193929369
Exac	rs193929369
Gnomad	rs193929369
Varsome	rs193929369
LitVar	rs193929369
Map	rs193929369
PheGenI	rs193929369
Biobank	rs193929369
1000 genomes	rs193929369
hgdp	rs193929369
ensembl	rs193929369
geneview	rs193929369
scholar	rs193929369
google	rs193929369
pharmgkb	rs193929369
gwascentral	rs193929369
openSNP	rs193929369
23andMe	rs193929369
SNPshot	rs193929369
SNPdbe	rs193929369
MSV3d	rs193929369
GWAS Ctlg	rs193929369

Max Magnitude

0

ClinVar
Risk	rs193929369(A;A)
Alt	rs193929369(A;A)
Reference	Rs193929369(C;C)
Significance	Pathogenic
Disease	Permanent neonatal diabetes mellitus
Variation	info
Gene	ABCC8
CLNDBN	Permanent neonatal diabetes mellitus
Reversed	1
HGVS	NC_000011.9:g.17426062G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009679.3,

[PMID 17668386] Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects.