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rs1057517199

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517199(-;A)
Make rs1057517199(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position17461820
GeneABCC8
is asnp
is mentioned by
dbSNPrs1057517199
dbSNP (old)rs1057517199
ClinGenrs1057517199
ebirs1057517199
HLIrs1057517199
Exacrs1057517199
Gnomadrs1057517199
Varsomers1057517199
Maprs1057517199
PheGenIrs1057517199
Biobankrs1057517199
1000 genomesrs1057517199
hgdprs1057517199
ensemblrs1057517199
gopubmedrs1057517199
geneviewrs1057517199
scholarrs1057517199
googlers1057517199
pharmgkbrs1057517199
gwascentralrs1057517199
openSNPrs1057517199
23andMers1057517199
23andMe allrs1057517199
SNPshotrs1057517199
SNPdbers1057517199
MSV3drs1057517199
GWAS Ctlgrs1057517199
Max Magnitude0
ClinVar
Risk rs1057517199(A;A)
Alt rs1057517199(A;A)
Reference Rs1057517199(-;-)
Significance Pathogenic
Disease Persistent hyperinsulinemic hypoglycemia of infancy
Variation info
Gene ABCC8
CLNDBN Persistent hyperinsulinemic hypoglycemia of infancy
Reversed 1
HGVS NC_000011.9:g.17483368dupT
CLNSRC
CLNACC RCV000410704.1,