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rs1057517274

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517274(A;A)
Make rs1057517274(A;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position17402659
GeneABCC8
is asnp
is mentioned by
dbSNPrs1057517274
dbSNP (classic)rs1057517274
ClinGenrs1057517274
ebirs1057517274
HLIrs1057517274
Exacrs1057517274
Gnomadrs1057517274
Varsomers1057517274
LitVarrs1057517274
Maprs1057517274
PheGenIrs1057517274
Biobankrs1057517274
1000 genomesrs1057517274
hgdprs1057517274
ensemblrs1057517274
geneviewrs1057517274
scholarrs1057517274
googlers1057517274
pharmgkbrs1057517274
gwascentralrs1057517274
openSNPrs1057517274
23andMers1057517274
SNPshotrs1057517274
SNPdbers1057517274
MSV3drs1057517274
GWAS Ctlgrs1057517274
Max Magnitude0
ClinVar
Risk rs1057517274(A;A)
Alt rs1057517274(A;A)
Reference Rs1057517274(T;T)
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.17424206A>T
CLNSRC
CLNACC RCV000411391.1,