rs193929361

Merged into

rs193929360

Orientation

minus

Stabilized

minus

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

Make rs193929361(G;G)

Make rs193929361(G;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

17474919

Gene

ABCC8

is a	snp
is	mentioned by
dbSNP	rs193929361
dbSNP (classic)	rs193929361
ClinGen	rs193929361
ebi	rs193929361
HLI	rs193929361
Exac	rs193929361
Gnomad	rs193929361
Varsome	rs193929361
LitVar	rs193929361
Map	rs193929361
PheGenI	rs193929361
Biobank	rs193929361
1000 genomes	rs193929361
hgdp	rs193929361
ensembl	rs193929361
geneview	rs193929361
scholar	rs193929361
google	rs193929361
pharmgkb	rs193929361
gwascentral	rs193929361
openSNP	rs193929361
23andMe	rs193929361
SNPshot	rs193929361
SNPdbe	rs193929361
MSV3d	rs193929361
GWAS Ctlg	rs193929361

Status

Merged into rs193929360

Max Magnitude

0

ClinVar
Risk	rs193929361(G;G)
Alt	rs193929361(G;G)
Reference	Rs193929361(T;T)
Significance	Pathogenic
Disease	Permanent neonatal diabetes mellitus
Variation	info
Gene
CLNDBN	Permanent neonatal diabetes mellitus
Reversed	1
HGVS	NC_000011.9:g.17496466A>C
CLNSRC	OMIM Allelic Variant GeneReviews
CLNACC	SCV000029899.1, SCV000040643.1,

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