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rs201682634

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs201682634(A;A)
Make rs201682634(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position17474956
GeneABCC8
is asnp
is mentioned by
dbSNPrs201682634
dbSNP (old)rs201682634
ClinGenrs201682634
ebirs201682634
HLIrs201682634
Exacrs201682634
Gnomadrs201682634
Varsomers201682634
Maprs201682634
PheGenIrs201682634
Biobankrs201682634
1000 genomesrs201682634
hgdprs201682634
ensemblrs201682634
gopubmedrs201682634
geneviewrs201682634
scholarrs201682634
googlers201682634
pharmgkbrs201682634
gwascentralrs201682634
openSNPrs201682634
23andMers201682634
23andMe allrs201682634
SNPshotrs201682634
SNPdbers201682634
MSV3drs201682634
GWAS Ctlgrs201682634
Max Magnitude0
ClinVar
Risk rs201682634(A;A)
Alt rs201682634(A;A)
Reference Rs201682634(G;G)
Significance Probable-Pathogenic
Disease Persistent hyperinsulinemic hypoglycemia of infancy
Variation info
Gene ABCC8
CLNDBN Persistent hyperinsulinemic hypoglycemia of infancy
Reversed 0
HGVS NC_000011.9:g.17496503G>A
CLNSRC
CLNACC RCV000409175.1,