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rs397515520

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397515520(A;C)
Make rs397515520(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position2161368
GeneINS, INS-IGF2
is asnp
is mentioned by
dbSNPrs397515520
dbSNP (classic)rs397515520
ClinGenrs397515520
ebirs397515520
HLIrs397515520
Exacrs397515520
Gnomadrs397515520
Varsomers397515520
LitVarrs397515520
Maprs397515520
PheGenIrs397515520
Biobankrs397515520
1000 genomesrs397515520
hgdprs397515520
ensemblrs397515520
geneviewrs397515520
scholarrs397515520
googlers397515520
pharmgkbrs397515520
gwascentralrs397515520
openSNPrs397515520
23andMers397515520
SNPshotrs397515520
SNPdbers397515520
MSV3drs397515520
GWAS Ctlgrs397515520
Max Magnitude0
ClinVar
Risk rs397515520(C;C)
Alt rs397515520(C;C)
Reference Rs397515520(A;A)
Significance Pathogenic
Disease Permanent neonatal diabetes mellitus
Variation info
Gene INS INS-IGF2
CLNDBN Permanent neonatal diabetes mellitus
Reversed 1
HGVS NC_000011.9:g.2182598T>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000055786.1,