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rs193929358

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193929358(A;A)
Make rs193929358(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position17387091
GeneKCNJ11
is asnp
is mentioned by
dbSNPrs193929358
dbSNP (classic)rs193929358
ClinGenrs193929358
ebirs193929358
HLIrs193929358
Exacrs193929358
Gnomadrs193929358
Varsomers193929358
LitVarrs193929358
Maprs193929358
PheGenIrs193929358
Biobankrs193929358
1000 genomesrs193929358
hgdprs193929358
ensemblrs193929358
geneviewrs193929358
scholarrs193929358
googlers193929358
pharmgkbrs193929358
gwascentralrs193929358
openSNPrs193929358
23andMers193929358
SNPshotrs193929358
SNPdbers193929358
MSV3drs193929358
GWAS Ctlgrs193929358
Max Magnitude0
ClinVar
Risk rs193929358(A;A)
Alt rs193929358(A;A)
Reference Rs193929358(G;G)
Significance Pathogenic
Disease Permanent neonatal diabetes mellitus
Variation info
Gene KCNJ11
CLNDBN Permanent neonatal diabetes mellitus
Reversed 1
HGVS NC_000011.9:g.17408638C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020344.1,