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rs28933985

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0
(G;G) 0 common in clinvar
Make rs28933985(A;A)
Make rs28933985(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position2159919
GeneINS, INS-IGF2
is asnp
is mentioned by
dbSNPrs28933985
ebirs28933985
HLIrs28933985
Exacrs28933985
Varsomers28933985
Maprs28933985
PheGenIrs28933985
hapmaprs28933985
1000 genomesrs28933985
hgdprs28933985
ensemblrs28933985
gopubmedrs28933985
geneviewrs28933985
scholarrs28933985
googlers28933985
pharmgkbrs28933985
gwascentralrs28933985
openSNPrs28933985
23andMers28933985
23andMe allrs28933985
SNP Nexus

SNPshotrs28933985
SNPdbers28933985
MSV3drs28933985
GWAS Ctlgrs28933985
Max Magnitude0
? (A;A) (A;G) (G;G) 28
OMIM176730
DescHYPERPROINSULINEMIA, FAMILIAL
Variant0004
Relatedalso
OMIM176730
Desc
Variant0006
Relatedalso
OMIM176730
Desc
Variant0007
Relatedalso


ClinVar
Risk rs28933985(A,C,T;A,C,T)
Alt rs28933985(A,C,T;A,C,T)
Reference rs28933985(G;G)
Significance Pathogenic
Disease Hyperproinsulinemia
Variation info
Gene INS IGF2 INS-IGF2
CLNDBN Hyperproinsulinemia
Reversed 1
HGVS NC_000011.9:g.2181149C>A; NC_000011.9:g.2181149C>G; NC_000011.9:g.2181149C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014313.25, RCV000014315.25, RCV000014310.25,