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rs121908278

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908278(C;T)
Make rs121908278(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position2160956
GeneINS, INS-IGF2
is asnp
is mentioned by
dbSNPrs121908278
ebirs121908278
HLIrs121908278
Exacrs121908278
Varsomers121908278
Maprs121908278
PheGenIrs121908278
hapmaprs121908278
1000 genomesrs121908278
hgdprs121908278
ensemblrs121908278
gopubmedrs121908278
geneviewrs121908278
scholarrs121908278
googlers121908278
pharmgkbrs121908278
gwascentralrs121908278
openSNPrs121908278
23andMers121908278
23andMe allrs121908278
SNP Nexus

SNPshotrs121908278
SNPdbers121908278
MSV3drs121908278
GWAS Ctlgrs121908278
Max Magnitude0
OMIM176730
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121908278(G,T;G,T)
Alt rs121908278(G,T;G,T)
Reference rs121908278(C;C)
Significance Pathogenic
Disease Maturity-onset diabetes of the young
Variation info
Gene INS INS-IGF2
CLNDBN Maturity-onset diabetes of the young, type 10
Reversed 1
HGVS NC_000011.9:g.2182186G>A
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000014322.25,


[PMID 18162506] Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.