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rs193929356

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs193929356(A;G)
Make rs193929356(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position17387103
GeneKCNJ11
is asnp
is mentioned by
dbSNPrs193929356
dbSNP (classic)rs193929356
ClinGenrs193929356
ebirs193929356
HLIrs193929356
Exacrs193929356
Gnomadrs193929356
Varsomers193929356
LitVarrs193929356
Maprs193929356
PheGenIrs193929356
Biobankrs193929356
1000 genomesrs193929356
hgdprs193929356
ensemblrs193929356
geneviewrs193929356
scholarrs193929356
googlers193929356
pharmgkbrs193929356
gwascentralrs193929356
openSNPrs193929356
23andMers193929356
SNPshotrs193929356
SNPdbers193929356
MSV3drs193929356
GWAS Ctlgrs193929356
Max Magnitude0
ClinVar
Risk rs193929356(G;G)
Alt rs193929356(G;G)
Reference Rs193929356(A;A)
Significance Pathogenic
Disease Permanent neonatal diabetes mellitus Neonatal insulin-dependent diabetes mellitus
Variation info
Gene KCNJ11
CLNDBN Permanent neonatal diabetes mellitus Neonatal insulin-dependent diabetes mellitus
Reversed 1
HGVS NC_000011.9:g.17408650T>C
CLNSRC ClinVar GeneReviews University of Chicago
CLNACC RCV000020361.1, RCV000146124.1,