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rs786204695

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs786204695(A;G)
Make rs786204695(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position17470224
GeneABCC8
is asnp
is mentioned by
dbSNPrs786204695
dbSNP (classic)rs786204695
ClinGenrs786204695
ebirs786204695
HLIrs786204695
Exacrs786204695
Gnomadrs786204695
Varsomers786204695
LitVarrs786204695
Maprs786204695
PheGenIrs786204695
Biobankrs786204695
1000 genomesrs786204695
hgdprs786204695
ensemblrs786204695
geneviewrs786204695
scholarrs786204695
googlers786204695
pharmgkbrs786204695
gwascentralrs786204695
openSNPrs786204695
23andMers786204695
SNPshotrs786204695
SNPdbers786204695
MSV3drs786204695
GWAS Ctlgrs786204695
Max Magnitude0
ClinVar
Risk rs786204695(G;G)
Alt rs786204695(G;G)
Reference Rs786204695(A;A)
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.17491771T>C
CLNSRC Counsyl
CLNACC RCV000169506.1,