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rs397515521

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515521(A;A)
Make rs397515521(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position2160969
GeneINS, INS-IGF2
is asnp
is mentioned by
dbSNPrs397515521
dbSNP (classic)rs397515521
ClinGenrs397515521
ebirs397515521
HLIrs397515521
Exacrs397515521
Gnomadrs397515521
Varsomers397515521
LitVarrs397515521
Maprs397515521
PheGenIrs397515521
Biobankrs397515521
1000 genomesrs397515521
hgdprs397515521
ensemblrs397515521
geneviewrs397515521
scholarrs397515521
googlers397515521
pharmgkbrs397515521
gwascentralrs397515521
openSNPrs397515521
23andMers397515521
SNPshotrs397515521
SNPdbers397515521
MSV3drs397515521
GWAS Ctlgrs397515521
Max Magnitude0
ClinVar
Risk rs397515521(A;A) rs397515521(T;T)
Alt rs397515521(A;A) rs397515521(T;T)
Reference Rs397515521(G;G)
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.2182199C>A; NC_000011.9:g.2182199C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000055792.1, RCV000055791.1,