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rs786204542

From SNPedia

Orientationminus
Geno Mag Summary
(ACC;ACC) 0 common in clinvar
Make rs786204542(ACC;CAGCCAGGAACTG)
Make rs786204542(CAGCCAGGAACTG;CAGCCAGGAACTG)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position17406924
GeneABCC8
is asnp
is mentioned by
dbSNPrs786204542
ebirs786204542
HLIrs786204542
Exacrs786204542
Varsomers786204542
Maprs786204542
PheGenIrs786204542
hapmaprs786204542
1000 genomesrs786204542
hgdprs786204542
ensemblrs786204542
gopubmedrs786204542
geneviewrs786204542
scholarrs786204542
googlers786204542
pharmgkbrs786204542
gwascentralrs786204542
openSNPrs786204542
23andMers786204542
23andMe allrs786204542
SNP Nexus

SNPshotrs786204542
SNPdbers786204542
MSV3drs786204542
GWAS Ctlgrs786204542
Max Magnitude0
ClinVar
Risk rs786204542(CAGCCAGGAACTG;CAGCCAGGAACTG)
Alt rs786204542(CAGCCAGGAACTG;CAGCCAGGAACTG)
Reference rs786204542(ACC;ACC)
Significance Probable-Pathogenic
Disease Persistent hyperinsulinemic hypoglycemia of infancy
Variation info
Gene ABCC8
CLNDBN Persistent hyperinsulinemic hypoglycemia of infancy
Reversed 1
HGVS NC_000011.9:g.17428471_17428473delGGTinsCAGTTCCTGGCTG
CLNSRC Counsyl
CLNACC RCV000169253.1,