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rs387906659

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906659(A;A)
Make rs387906659(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position40257052
GeneAKT2
is asnp
is mentioned by
dbSNPrs387906659
ClinGenrs387906659
ebirs387906659
HLIrs387906659
Exacrs387906659
Varsomers387906659
Maprs387906659
PheGenIrs387906659
hapmaprs387906659
1000 genomesrs387906659
hgdprs387906659
ensemblrs387906659
gopubmedrs387906659
geneviewrs387906659
scholarrs387906659
googlers387906659
pharmgkbrs387906659
gwascentralrs387906659
openSNPrs387906659
23andMers387906659
23andMe allrs387906659
SNP Nexus

SNPshotrs387906659
SNPdbers387906659
MSV3drs387906659
GWAS Ctlgrs387906659
Max Magnitude0
ClinVar
Risk rs387906659(A;A)
Alt rs387906659(A;A)
Reference Rs387906659(G;G)
Significance Pathogenic
Disease Hypoinsulinemic hypoglycemia and hemihypertrophy
Variation info
Gene AKT2
CLNDBN Hypoinsulinemic hypoglycemia and hemihypertrophy
Reversed 1
HGVS NC_000019.9:g.40762959C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000022676.25,