rs193929360

Orientation

minus

Stabilized

minus

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

Make rs193929360(C;C)

Make rs193929360(C;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

17474919

Gene

ABCC8

is a	snp
is	mentioned by
dbSNP	rs193929360
dbSNP (classic)	rs193929360
ClinGen	rs193929360
ebi	rs193929360
HLI	rs193929360
Exac	rs193929360
Gnomad	rs193929360
Varsome	rs193929360
LitVar	rs193929360
Map	rs193929360
PheGenI	rs193929360
Biobank	rs193929360
1000 genomes	rs193929360
hgdp	rs193929360
ensembl	rs193929360
geneview	rs193929360
scholar	rs193929360
google	rs193929360
pharmgkb	rs193929360
gwascentral	rs193929360
openSNP	rs193929360
23andMe	rs193929360
SNPshot	rs193929360
SNPdbe	rs193929360
MSV3d	rs193929360
GWAS Ctlg	rs193929360

Merged from

Rs193929361

Max Magnitude

0

ClinVar
Risk	rs193929360(C;C) rs193929360(G;G)
Alt	rs193929360(C;C) rs193929360(G;G)
Reference	Rs193929360(T;T)
Significance	Pathogenic
Disease	Permanent neonatal diabetes mellitus
Variation	info
Gene	ABCC8
CLNDBN	Permanent neonatal diabetes mellitus
Reversed	1
HGVS	NC_000011.9:g.17496466A>C; NC_000011.9:g.17496466A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009681.3, RCV000020285.1,

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